NM_001042492.3(NF1):c.*1A>C
|
rs876658388
|
0.00006
|
NM_001042492.3(NF1):c.3217A>G (p.Met1073Val)
|
rs199474740
|
0.00006
|
NM_001042492.3(NF1):c.181A>G (p.Ile61Val)
|
rs754295034
|
0.00004
|
NM_001042492.3(NF1):c.3358G>C (p.Val1120Leu)
|
rs200594167
|
0.00004
|
NM_001042492.3(NF1):c.3947A>G (p.His1316Arg)
|
rs751023085
|
0.00004
|
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser)
|
rs779727341
|
0.00003
|
NM_001042492.3(NF1):c.1975C>T (p.Arg659Trp)
|
rs757512142
|
0.00003
|
NM_001042492.3(NF1):c.2570A>G (p.Asn857Ser)
|
rs1060500299
|
0.00003
|
NM_001042492.3(NF1):c.2856A>C (p.Leu952Phe)
|
rs750488772
|
0.00003
|
NM_001042492.3(NF1):c.2999G>A (p.Arg1000His)
|
rs753082620
|
0.00003
|
NM_001042492.3(NF1):c.6082G>A (p.Ala2028Thr)
|
rs767869530
|
0.00003
|
NM_001042492.3(NF1):c.7003A>G (p.Thr2335Ala)
|
rs370209920
|
0.00003
|
NM_001042492.3(NF1):c.8479G>T (p.Ala2827Ser)
|
rs199878086
|
0.00003
|
NM_001042492.3(NF1):c.1213A>G (p.Thr405Ala)
|
rs587782233
|
0.00002
|
NM_001042492.3(NF1):c.1223A>G (p.Tyr408Cys)
|
rs876660344
|
0.00002
|
NM_001042492.3(NF1):c.1247G>A (p.Arg416Gln)
|
rs1343309278
|
0.00002
|
NM_001042492.3(NF1):c.145T>A (p.Tyr49Asn)
|
rs764367878
|
0.00002
|
NM_001042492.3(NF1):c.212T>C (p.Phe71Ser)
|
rs752396270
|
0.00002
|
NM_001042492.3(NF1):c.2282C>T (p.Ala761Val)
|
rs746850653
|
0.00002
|
NM_001042492.3(NF1):c.2617C>T (p.Arg873Cys)
|
rs199474739
|
0.00002
|
NM_001042492.3(NF1):c.367A>G (p.Thr123Ala)
|
rs587781757
|
0.00002
|
NM_001042492.3(NF1):c.4262C>T (p.Pro1421Leu)
|
rs753997885
|
0.00002
|
NM_001042492.3(NF1):c.4286A>G (p.Lys1429Arg)
|
rs778056258
|
0.00002
|
NM_001042492.3(NF1):c.4357G>A (p.Val1453Ile)
|
rs199474755
|
0.00002
|
NM_001042492.3(NF1):c.4426C>T (p.Arg1476Cys)
|
rs771420960
|
0.00002
|
NM_001042492.3(NF1):c.4657C>G (p.Pro1553Ala)
|
rs1033427343
|
0.00002
|
NM_001042492.3(NF1):c.512A>G (p.Asn171Ser)
|
rs767500770
|
0.00002
|
NM_001042492.3(NF1):c.5263A>G (p.Ile1755Val)
|
rs370181275
|
0.00002
|
NM_001042492.3(NF1):c.529A>G (p.Ile177Val)
|
rs766213678
|
0.00002
|
NM_001042492.3(NF1):c.5381T>C (p.Val1794Ala)
|
rs142867979
|
0.00002
|
NM_001042492.3(NF1):c.5423C>T (p.Thr1808Met)
|
rs760649828
|
0.00002
|
NM_001042492.3(NF1):c.5470A>G (p.Ile1824Val)
|
rs370858405
|
0.00002
|
NM_001042492.3(NF1):c.623C>T (p.Ala208Val)
|
rs758624540
|
0.00002
|
NM_001042492.3(NF1):c.7838C>T (p.Pro2613Leu)
|
rs750972729
|
0.00002
|
NM_001042492.3(NF1):c.1048G>A (p.Val350Met)
|
rs1185636269
|
0.00001
|
NM_001042492.3(NF1):c.1130T>C (p.Ile377Thr)
|
rs878853863
|
0.00001
|
NM_001042492.3(NF1):c.1138C>T (p.Leu380Phe)
|
rs1426127948
|
0.00001
|
NM_001042492.3(NF1):c.1156A>G (p.Ile386Val)
|
rs779930387
|
0.00001
|
NM_001042492.3(NF1):c.1264G>A (p.Ala422Thr)
|
rs786202145
|
0.00001
|
NM_001042492.3(NF1):c.1319G>A (p.Arg440Gln)
|
rs1466678870
|
0.00001
|
NM_001042492.3(NF1):c.1357G>A (p.Gly453Ser)
|
rs1273060925
|
0.00001
|
NM_001042492.3(NF1):c.1369C>T (p.His457Tyr)
|
rs757560526
|
0.00001
|
NM_001042492.3(NF1):c.1410A>C (p.Glu470Asp)
|
rs786203090
|
0.00001
|
NM_001042492.3(NF1):c.1444A>G (p.Thr482Ala)
|
rs770201871
|
0.00001
|
NM_001042492.3(NF1):c.1472A>G (p.Tyr491Cys)
|
rs199474757
|
0.00001
|
NM_001042492.3(NF1):c.1549G>A (p.Glu517Lys)
|
rs587778548
|
0.00001
|
NM_001042492.3(NF1):c.1553C>T (p.Thr518Ile)
|
rs587782696
|
0.00001
|
NM_001042492.3(NF1):c.1573T>A (p.Leu525Ile)
|
rs2066875204
|
0.00001
|
NM_001042492.3(NF1):c.1722-5T>C
|
rs1458980212
|
0.00001
|
NM_001042492.3(NF1):c.1756A>C (p.Thr586Pro)
|
rs876659242
|
0.00001
|
NM_001042492.3(NF1):c.1769T>C (p.Met590Thr)
|
rs761559887
|
0.00001
|
NM_001042492.3(NF1):c.1801C>T (p.Arg601Trp)
|
rs587782592
|
0.00001
|
NM_001042492.3(NF1):c.1870T>C (p.Phe624Leu)
|
rs765060733
|
0.00001
|
NM_001042492.3(NF1):c.1904C>T (p.Pro635Leu)
|
rs1597710514
|
0.00001
|
NM_001042492.3(NF1):c.1907C>G (p.Ser636Cys)
|
rs780412565
|
0.00001
|
NM_001042492.3(NF1):c.1936G>T (p.Asp646Tyr)
|
rs142079728
|
0.00001
|
NM_001042492.3(NF1):c.200A>G (p.Asn67Ser)
|
rs375038808
|
0.00001
|
NM_001042492.3(NF1):c.2045A>C (p.Gln682Pro)
|
rs1304889984
|
0.00001
|
NM_001042492.3(NF1):c.2054C>G (p.Thr685Ser)
|
rs876658190
|
0.00001
|
NM_001042492.3(NF1):c.2065G>A (p.Val689Met)
|
rs771784652
|
0.00001
|
NM_001042492.3(NF1):c.2132G>A (p.Arg711His)
|
rs1479669686
|
0.00001
|
NM_001042492.3(NF1):c.2156T>C (p.Ile719Thr)
|
rs754025938
|
0.00001
|
NM_001042492.3(NF1):c.2159G>A (p.Arg720Gln)
|
rs1350468182
|
0.00001
|
NM_001042492.3(NF1):c.2248A>G (p.Thr750Ala)
|
rs748064845
|
0.00001
|
NM_001042492.3(NF1):c.2293C>T (p.Arg765Cys)
|
rs1383770460
|
0.00001
|
NM_001042492.3(NF1):c.2296A>G (p.Ile766Val)
|
rs1303924124
|
0.00001
|
NM_001042492.3(NF1):c.2342A>T (p.His781Leu)
|
rs199474763
|
0.00001
|
NM_001042492.3(NF1):c.2345C>G (p.Ala782Gly)
|
rs1203924788
|
0.00001
|
NM_001042492.3(NF1):c.2378A>C (p.Asn793Thr)
|
rs772543826
|
0.00001
|
NM_001042492.3(NF1):c.2381A>C (p.Tyr794Ser)
|
rs773624220
|
0.00001
|
NM_001042492.3(NF1):c.2409+2T>C
|
rs876660826
|
0.00001
|
NM_001042492.3(NF1):c.2447G>A (p.Arg816Gln)
|
rs762709897
|
0.00001
|
NM_001042492.3(NF1):c.2476A>C (p.Ile826Leu)
|
rs767069721
|
0.00001
|
NM_001042492.3(NF1):c.2564G>C (p.Arg855Thr)
|
rs786203716
|
0.00001
|
NM_001042492.3(NF1):c.256A>G (p.Ile86Val)
|
rs757057811
|
0.00001
|
NM_001042492.3(NF1):c.2597C>T (p.Pro866Leu)
|
rs767159555
|
0.00001
|
NM_001042492.3(NF1):c.2618G>A (p.Arg873His)
|
rs949092641
|
0.00001
|
NM_001042492.3(NF1):c.2624G>T (p.Gly875Val)
|
rs1060500361
|
0.00001
|
NM_001042492.3(NF1):c.2629A>G (p.Met877Val)
|
rs764950557
|
0.00001
|
NM_001042492.3(NF1):c.2633T>C (p.Ile878Thr)
|
rs372049168
|
0.00001
|
NM_001042492.3(NF1):c.2643G>A (p.Met881Ile)
|
rs376666221
|
0.00001
|
NM_001042492.3(NF1):c.2666C>G (p.Thr889Arg)
|
rs369912079
|
0.00001
|
NM_001042492.3(NF1):c.2689C>T (p.Arg897Trp)
|
rs775949348
|
0.00001
|
NM_001042492.3(NF1):c.2690G>A (p.Arg897Gln)
|
rs863224658
|
0.00001
|
NM_001042492.3(NF1):c.2740C>T (p.Arg914Trp)
|
rs765848298
|
0.00001
|
NM_001042492.3(NF1):c.2741G>A (p.Arg914Gln)
|
rs776447057
|
0.00001
|
NM_001042492.3(NF1):c.2749G>A (p.Val917Ile)
|
rs752455591
|
0.00001
|
NM_001042492.3(NF1):c.2765G>A (p.Gly922Asp)
|
rs1378141985
|
0.00001
|
NM_001042492.3(NF1):c.2794A>G (p.Met932Val)
|
rs886052800
|
0.00001
|
NM_001042492.3(NF1):c.2795T>C (p.Met932Thr)
|
rs876659779
|
0.00001
|
NM_001042492.3(NF1):c.2803A>C (p.Asn935His)
|
rs786201823
|
0.00001
|
NM_001042492.3(NF1):c.2809T>G (p.Leu937Val)
|
rs1567849181
|
0.00001
|
NM_001042492.3(NF1):c.2825G>A (p.Ser942Asn)
|
rs1555614350
|
0.00001
|
NM_001042492.3(NF1):c.2850+5A>T
|
rs864622633
|
0.00001
|
NM_001042492.3(NF1):c.289-3T>C
|
rs1461646186
|
0.00001
|
NM_001042492.3(NF1):c.289-4T>G
|
rs1258767746
|
0.00001
|
NM_001042492.3(NF1):c.2902A>G (p.Met968Val)
|
rs587781499
|
0.00001
|
NM_001042492.3(NF1):c.2963T>C (p.Ile988Thr)
|
rs746670929
|
0.00001
|
NM_001042492.3(NF1):c.2968A>C (p.Thr990Pro)
|
rs876658299
|
0.00001
|
NM_001042492.3(NF1):c.2971A>G (p.Met991Val)
|
rs1268543864
|
0.00001
|
NM_001042492.3(NF1):c.2998C>T (p.Arg1000Cys)
|
rs367684252
|
0.00001
|
NM_001042492.3(NF1):c.3030A>C (p.Gln1010His)
|
rs1405071456
|
0.00001
|
NM_001042492.3(NF1):c.3038C>T (p.Thr1013Met)
|
rs786203132
|
0.00001
|
NM_001042492.3(NF1):c.304A>G (p.Met102Val)
|
rs756370324
|
0.00001
|
NM_001042492.3(NF1):c.3062T>G (p.Val1021Gly)
|
rs1355411201
|
0.00001
|
NM_001042492.3(NF1):c.3079G>A (p.Asp1027Asn)
|
rs774066804
|
0.00001
|
NM_001042492.3(NF1):c.3103A>G (p.Met1035Val)
|
rs771694969
|
0.00001
|
NM_001042492.3(NF1):c.3124G>A (p.Val1042Ile)
|
rs1446427729
|
0.00001
|
NM_001042492.3(NF1):c.3166G>A (p.Ala1056Thr)
|
rs776907522
|
0.00001
|
NM_001042492.3(NF1):c.3197+3A>G
|
rs1359512152
|
0.00001
|
NM_001042492.3(NF1):c.3315-5C>T
|
rs1266211447
|
0.00001
|
NM_001042492.3(NF1):c.3330T>A (p.Phe1110Leu)
|
rs1256152851
|
0.00001
|
NM_001042492.3(NF1):c.3359T>C (p.Val1120Ala)
|
rs751571517
|
0.00001
|
NM_001042492.3(NF1):c.3394C>T (p.Arg1132Cys)
|
rs587781725
|
0.00001
|
NM_001042492.3(NF1):c.3461A>G (p.Asn1154Ser)
|
rs371544233
|
0.00001
|
NM_001042492.3(NF1):c.3469G>A (p.Val1157Ile)
|
rs375845704
|
0.00001
|
NM_001042492.3(NF1):c.3485T>G (p.Met1162Arg)
|
rs200732832
|
0.00001
|
NM_001042492.3(NF1):c.348A>T (p.Glu116Asp)
|
rs1231174547
|
0.00001
|
NM_001042492.3(NF1):c.3490T>G (p.Ser1164Ala)
|
rs750303863
|
0.00001
|
NM_001042492.3(NF1):c.3527G>T (p.Arg1176Ile)
|
rs1227027709
|
0.00001
|
NM_001042492.3(NF1):c.3586C>T (p.Leu1196Phe)
|
rs1555615039
|
0.00001
|
NM_001042492.3(NF1):c.3590C>G (p.Ala1197Gly)
|
rs370820478
|
0.00001
|
NM_001042492.3(NF1):c.3694C>T (p.Pro1232Ser)
|
rs1482085668
|
0.00001
|
NM_001042492.3(NF1):c.3722G>A (p.Arg1241Gln)
|
rs543387071
|
0.00001
|
NM_001042492.3(NF1):c.3748C>T (p.Arg1250Trp)
|
rs1452005208
|
0.00001
|
NM_001042492.3(NF1):c.3749G>A (p.Arg1250Gln)
|
rs199474765
|
0.00001
|
NM_001042492.3(NF1):c.374G>A (p.Arg125His)
|
rs149003051
|
0.00001
|
NM_001042492.3(NF1):c.3778A>G (p.Met1260Val)
|
rs1264981144
|
0.00001
|
NM_001042492.3(NF1):c.3811A>G (p.Met1271Val)
|
rs746583007
|
0.00001
|
NM_001042492.3(NF1):c.3845G>A (p.Ser1282Asn)
|
rs1328592308
|
0.00001
|
NM_001042492.3(NF1):c.386A>G (p.Gln129Arg)
|
rs1060500250
|
0.00001
|
NM_001042492.3(NF1):c.3906T>G (p.Asp1302Glu)
|
rs549058591
|
0.00001
|
NM_001042492.3(NF1):c.3911T>C (p.Leu1304Ser)
|
rs761512189
|
0.00001
|
NM_001042492.3(NF1):c.3948T>A (p.His1316Gln)
|
rs1418340346
|
0.00001
|
NM_001042492.3(NF1):c.3962T>C (p.Val1321Ala)
|
rs1060500337
|
0.00001
|
NM_001042492.3(NF1):c.3976T>A (p.Leu1326Ile)
|
rs765957571
|
0.00001
|
NM_001042492.3(NF1):c.3989A>C (p.Glu1330Ala)
|
rs1256727206
|
0.00001
|
NM_001042492.3(NF1):c.4010G>T (p.Arg1337Leu)
|
rs1060500379
|
0.00001
|
NM_001042492.3(NF1):c.4024A>G (p.Met1342Val)
|
rs1597735093
|
0.00001
|
NM_001042492.3(NF1):c.403C>T (p.Arg135Trp)
|
rs775191883
|
0.00001
|
NM_001042492.3(NF1):c.4046C>A (p.Ala1349Asp)
|
rs1229215269
|
0.00001
|
NM_001042492.3(NF1):c.404G>A (p.Arg135Gln)
|
rs1060500244
|
0.00001
|
NM_001042492.3(NF1):c.4055G>C (p.Ser1352Thr)
|
rs876660908
|
0.00001
|
NM_001042492.3(NF1):c.4097A>T (p.His1366Leu)
|
rs769042915
|
0.00001
|
NM_001042492.3(NF1):c.4098C>G (p.His1366Gln)
|
rs1555617377
|
0.00001
|
NM_001042492.3(NF1):c.410C>G (p.Ser137Cys)
|
rs1597635932
|
0.00001
|
NM_001042492.3(NF1):c.4187G>A (p.Arg1396His)
|
rs368685980
|
0.00001
|
NM_001042492.3(NF1):c.4190T>A (p.Phe1397Tyr)
|
rs768223279
|
0.00001
|
NM_001042492.3(NF1):c.4201A>T (p.Ser1401Cys)
|
rs1060500310
|
0.00001
|
NM_001042492.3(NF1):c.4225A>G (p.Met1409Val)
|
rs1060500369
|
0.00001
|
NM_001042492.3(NF1):c.4244A>G (p.Asn1415Ser)
|
rs1406169018
|
0.00001
|
NM_001042492.3(NF1):c.4262C>A (p.Pro1421Gln)
|
rs753997885
|
0.00001
|
NM_001042492.3(NF1):c.4306G>A (p.Glu1436Lys)
|
rs876660428
|
0.00001
|
NM_001042492.3(NF1):c.4346T>C (p.Ile1449Thr)
|
rs1410459904
|
0.00001
|
NM_001042492.3(NF1):c.4352A>G (p.Asn1451Ser)
|
rs199474754
|
0.00001
|
NM_001042492.3(NF1):c.4378C>G (p.His1460Asp)
|
rs377295676
|
0.00001
|
NM_001042492.3(NF1):c.4382T>C (p.Met1461Thr)
|
rs754639587
|
0.00001
|
NM_001042492.3(NF1):c.4384C>T (p.Arg1462Trp)
|
rs876658127
|
0.00001
|
NM_001042492.3(NF1):c.4385G>A (p.Arg1462Gln)
|
rs370852681
|
0.00001
|
NM_001042492.3(NF1):c.4417G>A (p.Asp1473Asn)
|
rs587781790
|
0.00001
|
NM_001042492.3(NF1):c.4446A>G (p.Ile1482Met)
|
rs876658776
|
0.00001
|
NM_001042492.3(NF1):c.4460C>T (p.Pro1487Leu)
|
rs2067663223
|
0.00001
|
NM_001042492.3(NF1):c.4489T>C (p.Ser1497Pro)
|
rs763266925
|
0.00001
|
NM_001042492.3(NF1):c.4495A>G (p.Ile1499Val)
|
rs764654925
|
0.00001
|
NM_001042492.3(NF1):c.4504G>A (p.Gly1502Ser)
|
rs876659607
|
0.00001
|
NM_001042492.3(NF1):c.451A>C (p.Asn151His)
|
rs769391944
|
0.00001
|
NM_001042492.3(NF1):c.452A>G (p.Asn151Ser)
|
rs1567817981
|
0.00001
|
NM_001042492.3(NF1):c.4577+3A>G
|
rs1060500246
|
0.00001
|
NM_001042492.3(NF1):c.4578G>A (p.Arg1526=)
|
rs1356757316
|
0.00001
|
NM_001042492.3(NF1):c.4601G>A (p.Arg1534Gln)
|
rs867955218
|
0.00001
|
NM_001042492.3(NF1):c.4655A>G (p.Lys1552Arg)
|
rs1172780277
|
0.00001
|
NM_001042492.3(NF1):c.467G>A (p.Arg156His)
|
rs754096545
|
0.00001
|
NM_001042492.3(NF1):c.4690C>T (p.Leu1564Phe)
|
rs1427435078
|
0.00001
|
NM_001042492.3(NF1):c.4724+3A>G
|
rs781147524
|
0.00001
|
NM_001042492.3(NF1):c.4736A>G (p.His1579Arg)
|
rs1275751975
|
0.00001
|
NM_001042492.3(NF1):c.4793C>A (p.Thr1598Asn)
|
rs753453385
|
0.00001
|
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val)
|
rs199474766
|
0.00001
|
NM_001042492.3(NF1):c.4859G>A (p.Gly1620Asp)
|
rs587782213
|
0.00001
|
NM_001042492.3(NF1):c.4870A>G (p.Ile1624Val)
|
rs1555533280
|
0.00001
|
NM_001042492.3(NF1):c.4901A>G (p.Tyr1634Cys)
|
rs1597829621
|
0.00001
|
NM_001042492.3(NF1):c.4939C>T (p.His1647Tyr)
|
rs2069328243
|
0.00001
|
NM_001042492.3(NF1):c.4945G>A (p.Gly1649Arg)
|
rs770124316
|
0.00001
|
NM_001042492.3(NF1):c.4948C>T (p.Pro1650Ser)
|
rs1402198290
|
0.00001
|
NM_001042492.3(NF1):c.4957C>T (p.Arg1653Cys)
|
rs876659922
|
0.00001
|
NM_001042492.3(NF1):c.5026G>A (p.Ala1676Thr)
|
rs756450772
|
0.00001
|
NM_001042492.3(NF1):c.5079T>G (p.His1693Gln)
|
rs1555533365
|
0.00001
|
NM_001042492.3(NF1):c.5087T>C (p.Leu1696Pro)
|
rs745489489
|
0.00001
|
NM_001042492.3(NF1):c.5098C>T (p.Leu1700Phe)
|
rs775786295
|
0.00001
|
NM_001042492.3(NF1):c.5115G>C (p.Arg1705Ser)
|
rs749669269
|
0.00001
|
NM_001042492.3(NF1):c.5116C>T (p.Leu1706Phe)
|
rs769087878
|
0.00001
|
NM_001042492.3(NF1):c.5125A>G (p.Ile1709Val)
|
rs774720054
|
0.00001
|
NM_001042492.3(NF1):c.5126T>C (p.Ile1709Thr)
|
rs876660316
|
0.00001
|
NM_001042492.3(NF1):c.5167C>G (p.Gln1723Glu)
|
rs766727694
|
0.00001
|
NM_001042492.3(NF1):c.5183C>T (p.Ala1728Val)
|
rs1555533395
|
0.00001
|
NM_001042492.3(NF1):c.5270T>C (p.Val1757Ala)
|
rs1021835871
|
0.00001
|
NM_001042492.3(NF1):c.5293A>G (p.Thr1765Ala)
|
rs747584987
|
0.00001
|
NM_001042492.3(NF1):c.5351A>T (p.Tyr1784Phe)
|
rs1060500280
|
0.00001
|
NM_001042492.3(NF1):c.5357C>T (p.Ser1786Leu)
|
rs1555533569
|
0.00001
|
NM_001042492.3(NF1):c.541C>G (p.Gln181Glu)
|
rs753529924
|
0.00001
|
NM_001042492.3(NF1):c.5455G>A (p.Ala1819Thr)
|
rs368998534
|
0.00001
|
NM_001042492.3(NF1):c.5458A>C (p.Ile1820Leu)
|
rs786202459
|
0.00001
|
NM_001042492.3(NF1):c.5468C>G (p.Ser1823Cys)
|
rs1597832156
|
0.00001
|
NM_001042492.3(NF1):c.5509G>A (p.Asp1837Asn)
|
rs771597781
|
0.00001
|
NM_001042492.3(NF1):c.550A>C (p.Asn184His)
|
rs1555607101
|
0.00001
|
NM_001042492.3(NF1):c.5536C>T (p.Arg1846Trp)
|
rs769843989
|
0.00001
|
NM_001042492.3(NF1):c.5610-4C>G
|
rs1419030713
|
0.00001
|
NM_001042492.3(NF1):c.5665G>A (p.Glu1889Lys)
|
rs764782945
|
0.00001
|
NM_001042492.3(NF1):c.5731A>G (p.Ile1911Val)
|
rs146523293
|
0.00001
|
NM_001042492.3(NF1):c.5753A>G (p.Asn1918Ser)
|
rs534249104
|
0.00001
|
NM_001042492.3(NF1):c.5768C>T (p.Thr1923Met)
|
rs786203824
|
0.00001
|
NM_001042492.3(NF1):c.5941A>G (p.Met1981Val)
|
rs762935987
|
0.00001
|
NM_001042492.3(NF1):c.5947A>G (p.Ile1983Val)
|
rs876658484
|
0.00001
|
NM_001042492.3(NF1):c.5951A>G (p.Asn1984Ser)
|
rs764291252
|
0.00001
|
NM_001042492.3(NF1):c.607G>T (p.Ala203Ser)
|
rs904361724
|
0.00001
|
NM_001042492.3(NF1):c.6262C>G (p.Leu2088Val)
|
rs752569823
|
0.00001
|
NM_001042492.3(NF1):c.6316G>A (p.Val2106Ile)
|
rs755791578
|
0.00001
|
NM_001042492.3(NF1):c.631G>A (p.Ala211Thr)
|
rs781519491
|
0.00001
|
NM_001042492.3(NF1):c.6322A>T (p.Thr2108Ser)
|
rs1024333224
|
0.00001
|
NM_001042492.3(NF1):c.6334G>A (p.Ala2112Thr)
|
rs749672954
|
0.00001
|
NM_001042492.3(NF1):c.6377T>C (p.Val2126Ala)
|
rs1597843145
|
0.00001
|
NM_001042492.3(NF1):c.6449G>C (p.Arg2150Thr)
|
rs2069704009
|
0.00001
|
NM_001042492.3(NF1):c.6468C>G (p.Phe2156Leu)
|
rs768464936
|
0.00001
|
NM_001042492.3(NF1):c.6646T>A (p.Cys2216Ser)
|
rs757736155
|
0.00001
|
NM_001042492.3(NF1):c.6667T>C (p.Cys2223Arg)
|
rs1192120725
|
0.00001
|
NM_001042492.3(NF1):c.6671A>G (p.Lys2224Arg)
|
rs749567006
|
0.00001
|
NM_001042492.3(NF1):c.6761G>A (p.Cys2254Tyr)
|
rs1361250850
|
0.00001
|
NM_001042492.3(NF1):c.6773G>A (p.Arg2258Gln)
|
rs786202030
|
0.00001
|
NM_001042492.3(NF1):c.6779C>T (p.Ser2260Phe)
|
rs876658775
|
0.00001
|
NM_001042492.3(NF1):c.6785G>A (p.Gly2262Glu)
|
rs997781719
|
0.00001
|
NM_001042492.3(NF1):c.6790A>T (p.Ile2264Leu)
|
rs761213794
|
0.00001
|
NM_001042492.3(NF1):c.680A>T (p.Tyr227Phe)
|
rs1555608742
|
0.00001
|
NM_001042492.3(NF1):c.6839A>G (p.Lys2280Arg)
|
rs773858629
|
0.00001
|
NM_001042492.3(NF1):c.6936C>G (p.His2312Gln)
|
rs1567618937
|
0.00001
|
NM_001042492.3(NF1):c.7009C>T (p.Leu2337Phe)
|
rs367734104
|
0.00001
|
NM_001042492.3(NF1):c.7039A>G (p.Ser2347Gly)
|
rs1060500318
|
0.00001
|
NM_001042492.3(NF1):c.703T>C (p.Tyr235His)
|
rs864622465
|
0.00001
|
NM_001042492.3(NF1):c.7045C>T (p.Arg2349Cys)
|
rs56013763
|
0.00001
|
NM_001042492.3(NF1):c.7080T>A (p.Phe2360Leu)
|
rs2069866250
|
0.00001
|
NM_001042492.3(NF1):c.7091G>A (p.Arg2364Gln)
|
rs1555535407
|
0.00001
|
NM_001042492.3(NF1):c.7135G>A (p.Gly2379Arg)
|
rs775476318
|
0.00001
|
NM_001042492.3(NF1):c.7148A>G (p.Asn2383Ser)
|
rs146296921
|
0.00001
|
NM_001042492.3(NF1):c.7211C>T (p.Ala2404Val)
|
rs771706364
|
0.00001
|
NM_001042492.3(NF1):c.7253C>T (p.Thr2418Ile)
|
rs764022114
|
0.00001
|
NM_001042492.3(NF1):c.7306G>A (p.Val2436Met)
|
rs876659856
|
0.00001
|
NM_001042492.3(NF1):c.731-5T>C
|
rs1597659721
|
0.00001
|
NM_001042492.3(NF1):c.732A>C (p.Glu244Asp)
|
rs1567826603
|
0.00001
|
NM_001042492.3(NF1):c.7341A>C (p.Glu2447Asp)
|
rs878853915
|
0.00001
|
NM_001042492.3(NF1):c.7370A>G (p.His2457Arg)
|
rs863224664
|
0.00001
|
NM_001042492.3(NF1):c.7397T>C (p.Ile2466Thr)
|
rs771915484
|
0.00001
|
NM_001042492.3(NF1):c.7432A>G (p.Ile2478Val)
|
rs759307070
|
0.00001
|
NM_001042492.3(NF1):c.7454A>G (p.Tyr2485Cys)
|
rs1022605462
|
0.00001
|
NM_001042492.3(NF1):c.7487C>G (p.Ser2496Cys)
|
rs371773406
|
0.00001
|
NM_001042492.3(NF1):c.7493A>G (p.Lys2498Arg)
|
rs1269264795
|
0.00001
|
NM_001042492.3(NF1):c.7510C>G (p.Leu2504Val)
|
rs876658333
|
0.00001
|
NM_001042492.3(NF1):c.7525C>T (p.Pro2509Ser)
|
rs886052803
|
0.00001
|
NM_001042492.3(NF1):c.7585C>T (p.Pro2529Ser)
|
rs1555536370
|
0.00001
|
NM_001042492.3(NF1):c.7643T>G (p.Ile2548Arg)
|
rs864622266
|
0.00001
|
NM_001042492.3(NF1):c.7668G>C (p.Arg2556Ser)
|
rs876659035
|
0.00001
|
NM_001042492.3(NF1):c.7675A>G (p.Met2559Val)
|
rs779373258
|
0.00001
|
NM_001042492.3(NF1):c.7700C>T (p.Pro2567Leu)
|
rs754511534
|
0.00001
|
NM_001042492.3(NF1):c.7729T>C (p.Tyr2577His)
|
rs778143477
|
0.00001
|
NM_001042492.3(NF1):c.7757C>T (p.Ser2586Leu)
|
rs769876049
|
0.00001
|
NM_001042492.3(NF1):c.7780C>T (p.Arg2594Cys)
|
rs372787215
|
0.00001
|
NM_001042492.3(NF1):c.7781G>A (p.Arg2594His)
|
rs774781617
|
0.00001
|
NM_001042492.3(NF1):c.7793T>C (p.Val2598Ala)
|
rs760531845
|
0.00001
|
NM_001042492.3(NF1):c.7822G>C (p.Glu2608Gln)
|
rs1597866487
|
0.00001
|
NM_001042492.3(NF1):c.7825G>A (p.Val2609Ile)
|
rs786203848
|
0.00001
|
NM_001042492.3(NF1):c.7837C>T (p.Pro2613Ser)
|
rs138839077
|
0.00001
|
NM_001042492.3(NF1):c.7850C>T (p.Ala2617Val)
|
rs375990655
|
0.00001
|
NM_001042492.3(NF1):c.7876C>G (p.Leu2626Val)
|
rs1555536748
|
0.00001
|
NM_001042492.3(NF1):c.7889C>G (p.Thr2630Ser)
|
rs1283946778
|
0.00001
|
NM_001042492.3(NF1):c.7891A>G (p.Thr2631Ala)
|
rs199474793
|
0.00001
|
NM_001042492.3(NF1):c.7897G>A (p.Glu2633Lys)
|
rs750754640
|
0.00001
|
NM_001042492.3(NF1):c.7901T>C (p.Phe2634Ser)
|
rs756567782
|
0.00001
|
NM_001042492.3(NF1):c.7931C>G (p.Ala2644Gly)
|
rs766494934
|
0.00001
|
NM_001042492.3(NF1):c.7943T>G (p.Val2648Gly)
|
rs1487025591
|
0.00001
|
NM_001042492.3(NF1):c.8012T>C (p.Leu2671Ser)
|
rs1207124870
|
0.00001
|
NM_001042492.3(NF1):c.8080T>C (p.Ser2694Pro)
|
rs876658554
|
0.00001
|
NM_001042492.3(NF1):c.8182G>A (p.Ala2728Thr)
|
rs750603086
|
0.00001
|
NM_001042492.3(NF1):c.824T>C (p.Ile275Thr)
|
rs1406698961
|
0.00001
|
NM_001042492.3(NF1):c.8324A>G (p.Asn2775Ser)
|
rs772090874
|
0.00001
|
NM_001042492.3(NF1):c.8377+4A>G
|
rs1224454019
|
0.00001
|
NM_001042492.3(NF1):c.8378G>C (p.Gly2793Ala)
|
rs1275285522
|
0.00001
|
NM_001042492.3(NF1):c.83A>C (p.Gln28Pro)
|
rs587782686
|
0.00001
|
NM_001042492.3(NF1):c.8423G>C (p.Cys2808Ser)
|
rs148473245
|
0.00001
|
NM_001042492.3(NF1):c.845A>G (p.Gln282Arg)
|
rs779034900
|
0.00001
|
NM_001042492.3(NF1):c.848A>T (p.Asp283Val)
|
rs878853921
|
0.00001
|
NM_001042492.3(NF1):c.8495G>A (p.Arg2832His)
|
rs587781523
|
0.00001
|
NM_001042492.3(NF1):c.8497A>G (p.Asn2833Asp)
|
rs786202863
|
0.00001
|
NM_001042492.3(NF1):c.8500A>G (p.Ser2834Gly)
|
rs764858484
|
0.00001
|
NM_001042492.3(NF1):c.853T>G (p.Ser285Ala)
|
rs1555608981
|
0.00001
|
NM_001042492.3(NF1):c.862G>A (p.Val288Met)
|
rs755670651
|
0.00001
|
NM_001042492.3(NF1):c.890A>G (p.Lys297Arg)
|
rs1219929525
|
0.00001
|
NM_001042492.3(NF1):c.911G>A (p.Arg304Gln)
|
rs76015786
|
0.00001
|
NM_000267.3:c.8455_8456insALU
|
|
|
NM_001042492.3(NF1):c.1002C>G (p.Ile334Met)
|
rs2143873647
|
|
NM_001042492.3(NF1):c.101T>C (p.Val34Ala)
|
rs1217358160
|
|
NM_001042492.3(NF1):c.1021G>A (p.Val341Ile)
|
rs1555610907
|
|
NM_001042492.3(NF1):c.1024A>G (p.Ile342Val)
|
rs2066509214
|
|
NM_001042492.3(NF1):c.1024A>T (p.Ile342Phe)
|
|
|
NM_001042492.3(NF1):c.1029C>G (p.Phe343Leu)
|
|
|
NM_001042492.3(NF1):c.1031T>C (p.Leu344Pro)
|
|
|
NM_001042492.3(NF1):c.1033C>G (p.Leu345Val)
|
|
|
NM_001042492.3(NF1):c.1033C>T (p.Leu345Phe)
|
|
|
NM_001042492.3(NF1):c.1036G>A (p.Val346Ile)
|
|
|
NM_001042492.3(NF1):c.1037T>C (p.Val346Ala)
|
rs1597681117
|
|
NM_001042492.3(NF1):c.1040A>T (p.Gln347Leu)
|
rs1597681131
|
|
NM_001042492.3(NF1):c.1042T>C (p.Ser348Pro)
|
rs864622064
|
|
NM_001042492.3(NF1):c.1045A>G (p.Met349Val)
|
rs776050648
|
|
NM_001042492.3(NF1):c.1048G>T (p.Val350Leu)
|
|
|
NM_001042492.3(NF1):c.1050G>A (p.Val350=)
|
|
|
NM_001042492.3(NF1):c.1051G>T (p.Val351Phe)
|
rs1597681173
|
|
NM_001042492.3(NF1):c.1057C>T (p.Leu353Phe)
|
|
|
NM_001042492.3(NF1):c.1062+2T>G
|
rs2066510391
|
|
NM_001042492.3(NF1):c.1062+5C>T
|
rs1555610916
|
|
NM_001042492.3(NF1):c.1065C>G (p.Asn355Lys)
|
|
|
NM_001042492.3(NF1):c.1067T>C (p.Leu356Pro)
|
|
|
NM_001042492.3(NF1):c.1069C>T (p.Leu357Phe)
|
rs1567835662
|
|
NM_001042492.3(NF1):c.1078C>T (p.Pro360Ser)
|
rs1597681902
|
|
NM_001042492.3(NF1):c.107C>T (p.Thr36Ile)
|
rs199966218
|
|
NM_001042492.3(NF1):c.1081A>G (p.Ser361Gly)
|
|
|
NM_001042492.3(NF1):c.1085A>G (p.Lys362Arg)
|
rs1555610976
|
|
NM_001042492.3(NF1):c.1094C>T (p.Ser365Leu)
|
|
|
NM_001042492.3(NF1):c.1099G>A (p.Gly367Ser)
|
|
|
NM_001042492.3(NF1):c.1103G>A (p.Ser368Asn)
|
rs1597681975
|
|
NM_001042492.3(NF1):c.1108C>A (p.Pro370Thr)
|
|
|
NM_001042492.3(NF1):c.1108C>T (p.Pro370Ser)
|
rs878853862
|
|
NM_001042492.3(NF1):c.110A>C (p.Glu37Ala)
|
|
|
NM_001042492.3(NF1):c.1123C>A (p.Leu375Ile)
|
|
|
NM_001042492.3(NF1):c.1128G>A (p.Met376Ile)
|
rs2143879572
|
|
NM_001042492.3(NF1):c.1128G>T (p.Met376Ile)
|
|
|
NM_001042492.3(NF1):c.1129A>G (p.Ile377Val)
|
rs2143879598
|
|
NM_001042492.3(NF1):c.1137C>G (p.Cys379Trp)
|
|
|
NM_001042492.3(NF1):c.1153C>G (p.Arg385Gly)
|
rs1322986962
|
|
NM_001042492.3(NF1):c.1154G>A (p.Arg385His)
|
rs1350329837
|
|
NM_001042492.3(NF1):c.1160G>A (p.Ser387Asn)
|
rs1555611025
|
|
NM_001042492.3(NF1):c.1160G>T (p.Ser387Ile)
|
|
|
NM_001042492.3(NF1):c.116A>G (p.Asn39Ser)
|
rs1567814494
|
|
NM_001042492.3(NF1):c.1182T>G (p.Phe394Leu)
|
rs786202581
|
|
NM_001042492.3(NF1):c.1184A>C (p.Lys395Thr)
|
|
|
NM_001042492.3(NF1):c.1186A>C (p.Ile396Leu)
|
rs1413735911
|
|
NM_001042492.3(NF1):c.1188C>G (p.Ile396Met)
|
|
|
NM_001042492.3(NF1):c.1190G>A (p.Cys397Tyr)
|
|
|
NM_001042492.3(NF1):c.1190G>T (p.Cys397Phe)
|
rs786201937
|
|
NM_001042492.3(NF1):c.1192C>G (p.Leu398Val)
|
|
|
NM_001042492.3(NF1):c.1193T>A (p.Leu398Gln)
|
|
|
NM_001042492.3(NF1):c.119A>G (p.Lys40Arg)
|
|
|
NM_001042492.3(NF1):c.1200G>C (p.Gln400His)
|
rs2066527837
|
|
NM_001042492.3(NF1):c.1210_1212del (p.Ser404del)
|
|
|
NM_001042492.3(NF1):c.1211C>A (p.Ser404Tyr)
|
rs1597682758
|
|
NM_001042492.3(NF1):c.1214C>T (p.Thr405Ile)
|
rs1555611082
|
|
NM_001042492.3(NF1):c.1220A>T (p.His407Leu)
|
|
|
NM_001042492.3(NF1):c.1222T>G (p.Tyr408Asp)
|
rs2066528210
|
|
NM_001042492.3(NF1):c.1225G>A (p.Val409Met)
|
rs2143886228
|
|
NM_001042492.3(NF1):c.122A>C (p.Glu41Ala)
|
rs786203038
|
|
NM_001042492.3(NF1):c.1231G>A (p.Val411Ile)
|
rs199703072
|
|
NM_001042492.3(NF1):c.1238C>T (p.Ser413Leu)
|
|
|
NM_001042492.3(NF1):c.1240C>T (p.Leu414Phe)
|
|
|
NM_001042492.3(NF1):c.1247G>C (p.Arg416Pro)
|
|
|
NM_001042492.3(NF1):c.1252A>G (p.Ile418Val)
|
rs1597682898
|
|
NM_001042492.3(NF1):c.1258A>G (p.Asn420Asp)
|
|
|
NM_001042492.3(NF1):c.1259A>G (p.Asn420Ser)
|
rs1555611107
|
|
NM_001042492.3(NF1):c.125G>T (p.Cys42Phe)
|
|
|
NM_001042492.3(NF1):c.1260+3A>G
|
|
|
NM_001042492.3(NF1):c.1261-3T>C
|
|
|
NM_001042492.3(NF1):c.1261T>G (p.Ser421Ala)
|
rs878853864
|
|
NM_001042492.3(NF1):c.1263C>A (p.Ser421=)
|
rs767410768
|
|
NM_001042492.3(NF1):c.1264G>T (p.Ala422Ser)
|
rs786202145
|
|
NM_001042492.3(NF1):c.1268T>G (p.Leu423Trp)
|
|
|
NM_001042492.3(NF1):c.1273T>C (p.Trp425Arg)
|
|
|
NM_001042492.3(NF1):c.1274G>C (p.Trp425Ser)
|
rs1597688734
|
|
NM_001042492.3(NF1):c.1282A>G (p.Lys428Glu)
|
rs1597688751
|
|
NM_001042492.3(NF1):c.1291G>A (p.Ala431Thr)
|
rs2066619337
|
|
NM_001042492.3(NF1):c.1298A>T (p.Tyr433Phe)
|
|
|
NM_001042492.3(NF1):c.1303C>T (p.His435Tyr)
|
|
|
NM_001042492.3(NF1):c.1304A>G (p.His435Arg)
|
rs1555611571
|
|
NM_001042492.3(NF1):c.1307C>T (p.Ser436Leu)
|
rs755190083
|
|
NM_001042492.3(NF1):c.1309G>T (p.Val437Phe)
|
rs1555611574
|
|
NM_001042492.3(NF1):c.130A>G (p.Ile44Val)
|
rs1597625982
|
|
NM_001042492.3(NF1):c.1310T>A (p.Val437Asp)
|
rs876658642
|
|
NM_001042492.3(NF1):c.1315C>T (p.Leu439Phe)
|
|
|
NM_001042492.3(NF1):c.1316T>G (p.Leu439Arg)
|
|
|
NM_001042492.3(NF1):c.1319G>C (p.Arg440Pro)
|
|
|
NM_001042492.3(NF1):c.1322A>G (p.Asn441Ser)
|
rs370020114
|
|
NM_001042492.3(NF1):c.1325T>C (p.Met442Thr)
|
rs1555611580
|
|
NM_001042492.3(NF1):c.1330G>C (p.Gly444Arg)
|
rs1162173842
|
|
NM_001042492.3(NF1):c.1330G>T (p.Gly444Cys)
|
|
|
NM_001042492.3(NF1):c.1331G>A (p.Gly444Asp)
|
rs1555611582
|
|
NM_001042492.3(NF1):c.1342C>T (p.His448Tyr)
|
rs1131691257
|
|
NM_001042492.3(NF1):c.1347A>C (p.Lys449Asn)
|
rs2143914827
|
|
NM_001042492.3(NF1):c.1348G>A (p.Ala450Thr)
|
rs2143914842
|
|
NM_001042492.3(NF1):c.1352T>C (p.Val451Ala)
|
rs747466938
|
|
NM_001042492.3(NF1):c.1352T>G (p.Val451Gly)
|
rs747466938
|
|
NM_001042492.3(NF1):c.1355A>T (p.Gln452Leu)
|
rs2066621372
|
|
NM_001042492.3(NF1):c.1356A>C (p.Gln452His)
|
rs1324833228
|
|
NM_001042492.3(NF1):c.1358G>C (p.Gly453Ala)
|
|
|
NM_001042492.3(NF1):c.1358G>T (p.Gly453Val)
|
rs876660915
|
|
NM_001042492.3(NF1):c.1361G>A (p.Cys454Tyr)
|
rs983914251
|
|
NM_001042492.3(NF1):c.1367C>T (p.Ala456Val)
|
rs1597688962
|
|
NM_001042492.3(NF1):c.1370A>T (p.His457Leu)
|
rs786202763
|
|
NM_001042492.3(NF1):c.1371C>A (p.His457Gln)
|
rs1318894606
|
|
NM_001042492.3(NF1):c.1372C>G (p.Pro458Ala)
|
rs1597688990
|
|
NM_001042492.3(NF1):c.1372C>T (p.Pro458Ser)
|
|
|
NM_001042492.3(NF1):c.1373C>A (p.Pro458Gln)
|
rs781555047
|
|
NM_001042492.3(NF1):c.1373C>T (p.Pro458Leu)
|
rs781555047
|
|
NM_001042492.3(NF1):c.1376C>T (p.Ala459Val)
|
rs1131691070
|
|
NM_001042492.3(NF1):c.1379T>C (p.Ile460Thr)
|
rs147417054
|
|
NM_001042492.3(NF1):c.1382G>A (p.Arg461Gln)
|
rs1555611606
|
|
NM_001042492.3(NF1):c.1382G>T (p.Arg461Leu)
|
rs1555611606
|
|
NM_001042492.3(NF1):c.1386G>A (p.Met462Ile)
|
|
|
NM_001042492.3(NF1):c.1387G>C (p.Ala463Pro)
|
rs1555611607
|
|
NM_001042492.3(NF1):c.1391C>T (p.Pro464Leu)
|
rs1269425503
|
|
NM_001042492.3(NF1):c.1392+4A>G
|
rs1555611611
|
|
NM_001042492.3(NF1):c.1392G>T (p.Pro464=)
|
rs201604273
|
|
NM_001042492.3(NF1):c.1400C>T (p.Thr467Ile)
|
rs1567841729
|
|
NM_001042492.3(NF1):c.1404T>A (p.Phe468Leu)
|
|
|
NM_001042492.3(NF1):c.1421G>A (p.Ser474Asn)
|
rs2066785879
|
|
NM_001042492.3(NF1):c.1429T>C (p.Phe477Leu)
|
rs1555612276
|
|
NM_001042492.3(NF1):c.1431T>A (p.Phe477Leu)
|
rs1555612278
|
|
NM_001042492.3(NF1):c.1433A>T (p.Lys478Ile)
|
|
|
NM_001042492.3(NF1):c.1441C>G (p.Pro481Ala)
|
|
|
NM_001042492.3(NF1):c.1442C>T (p.Pro481Leu)
|
rs1355572914
|
|
NM_001042492.3(NF1):c.1445C>T (p.Thr482Ile)
|
rs1004943800
|
|
NM_001042492.3(NF1):c.1447G>A (p.Asp483Asn)
|
|
|
NM_001042492.3(NF1):c.1459A>G (p.Arg487Gly)
|
rs1597698420
|
|
NM_001042492.3(NF1):c.145T>C (p.Tyr49His)
|
|
|
NM_001042492.3(NF1):c.1465T>C (p.Tyr489His)
|
rs2066786672
|
|
NM_001042492.3(NF1):c.1465T>G (p.Tyr489Asp)
|
rs2066786672
|
|
NM_001042492.3(NF1):c.1466A>C (p.Tyr489Ser)
|
|
|
NM_001042492.3(NF1):c.1468A>G (p.Lys490Glu)
|
rs1181298067
|
|
NM_001042492.3(NF1):c.1469A>G (p.Lys490Arg)
|
rs1060500260
|
|
NM_001042492.3(NF1):c.1469A>T (p.Lys490Met)
|
|
|
NM_001042492.3(NF1):c.1478T>G (p.Leu493Arg)
|
|
|
NM_001042492.3(NF1):c.1487T>A (p.Met496Lys)
|
|
|
NM_001042492.3(NF1):c.1489G>A (p.Val497Met)
|
|
|
NM_001042492.3(NF1):c.1490T>A (p.Val497Glu)
|
|
|
NM_001042492.3(NF1):c.1492A>C (p.Lys498Gln)
|
|
|
NM_001042492.3(NF1):c.1493A>T (p.Lys498Ile)
|
|
|
NM_001042492.3(NF1):c.1496T>C (p.Leu499Pro)
|
rs1555612288
|
|
NM_001042492.3(NF1):c.1496T>G (p.Leu499Arg)
|
rs1555612288
|
|
NM_001042492.3(NF1):c.149A>G (p.Lys50Arg)
|
rs1555604907
|
|
NM_001042492.3(NF1):c.1502A>T (p.His501Leu)
|
rs1597698479
|
|
NM_001042492.3(NF1):c.1503T>G (p.His501Gln)
|
|
|
NM_001042492.3(NF1):c.1504G>C (p.Ala502Pro)
|
|
|
NM_001042492.3(NF1):c.1505C>G (p.Ala502Gly)
|
|
|
NM_001042492.3(NF1):c.150G>T (p.Lys50Asn)
|
|
|
NM_001042492.3(NF1):c.1510C>A (p.Pro504Thr)
|
rs1597698495
|
|
NM_001042492.3(NF1):c.1515G>C (p.Lys505Asn)
|
|
|
NM_001042492.3(NF1):c.1522C>A (p.Leu508Ile)
|
|
|
NM_001042492.3(NF1):c.1523T>A (p.Leu508His)
|
|
|
NM_001042492.3(NF1):c.1523T>G (p.Leu508Arg)
|
|
|
NM_001042492.3(NF1):c.1526G>A (p.Cys509Tyr)
|
rs1597698521
|
|
NM_001042492.3(NF1):c.1531C>A (p.Pro511Thr)
|
|
|
NM_001042492.3(NF1):c.1535G>T (p.Arg512Ile)
|
|
|
NM_001042492.3(NF1):c.1541A>G (p.Gln514Arg)
|
rs775369084
|
|
NM_001042492.3(NF1):c.1546C>A (p.Pro516Thr)
|
|
|
NM_001042492.3(NF1):c.1551A>C (p.Glu517Asp)
|
|
|
NM_001042492.3(NF1):c.1565C>T (p.Thr522Ile)
|
|
|
NM_001042492.3(NF1):c.1585C>T (p.Leu529Phe)
|
rs1135402816
|
|
NM_001042492.3(NF1):c.159G>C (p.Leu53Phe)
|
|
|
NM_001042492.3(NF1):c.1600C>T (p.Pro534Ser)
|
rs1555612858
|
|
NM_001042492.3(NF1):c.1601C>G (p.Pro534Arg)
|
|
|
NM_001042492.3(NF1):c.1609C>T (p.His537Tyr)
|
rs786203860
|
|
NM_001042492.3(NF1):c.160G>T (p.Val54Phe)
|
rs1060500330
|
|
NM_001042492.3(NF1):c.1611C>A (p.His537Gln)
|
rs1597703539
|
|
NM_001042492.3(NF1):c.1614G>A (p.Met538Ile)
|
|
|
NM_001042492.3(NF1):c.1624G>A (p.Ala542Thr)
|
|
|
NM_001042492.3(NF1):c.1633G>C (p.Ala545Pro)
|
rs1567843945
|
|
NM_001042492.3(NF1):c.1633G>T (p.Ala545Ser)
|
|
|
NM_001042492.3(NF1):c.1636A>G (p.Met546Val)
|
rs2066877456
|
|
NM_001042492.3(NF1):c.1641+4A>G
|
rs1597703610
|
|
NM_001042492.3(NF1):c.1641G>A (p.Glu547=)
|
|
|
NM_001042492.3(NF1):c.1642-5T>A
|
|
|
NM_001042492.3(NF1):c.1642G>T (p.Ala548Ser)
|
rs2066927450
|
|
NM_001042492.3(NF1):c.1643C>T (p.Ala548Val)
|
rs1567844997
|
|
NM_001042492.3(NF1):c.164T>C (p.Ile55Thr)
|
rs2065657050
|
|
NM_001042492.3(NF1):c.1652T>C (p.Val551Ala)
|
rs113867817
|
|
NM_001042492.3(NF1):c.1657C>A (p.His553Asn)
|
|
|
NM_001042492.3(NF1):c.1661A>G (p.Gln554Arg)
|
rs863224656
|
|
NM_001042492.3(NF1):c.1661A>T (p.Gln554Leu)
|
|
|
NM_001042492.3(NF1):c.1666G>C (p.Asp556His)
|
|
|
NM_001042492.3(NF1):c.1667A>G (p.Asp556Gly)
|
rs2144004099
|
|
NM_001042492.3(NF1):c.1668T>G (p.Asp556Glu)
|
|
|
NM_001042492.3(NF1):c.1670G>A (p.Ser557Asn)
|
rs1567845046
|
|
NM_001042492.3(NF1):c.1673T>C (p.Ile558Thr)
|
rs2144004218
|
|
NM_001042492.3(NF1):c.1675G>A (p.Asp559Asn)
|
rs2144004244
|
|
NM_001042492.3(NF1):c.1677T>G (p.Asp559Glu)
|
|
|
NM_001042492.3(NF1):c.1685A>C (p.Asn562Thr)
|
rs1597706709
|
|
NM_001042492.3(NF1):c.1687C>A (p.Pro563Thr)
|
|
|
NM_001042492.3(NF1):c.1690G>T (p.Asp564Tyr)
|
rs2144004484
|
|
NM_001042492.3(NF1):c.1696C>G (p.Pro566Ala)
|
rs2066928875
|
|
NM_001042492.3(NF1):c.1696C>T (p.Pro566Ser)
|
|
|
NM_001042492.3(NF1):c.1700T>C (p.Val567Ala)
|
rs2144004648
|
|
NM_001042492.3(NF1):c.1702G>C (p.Glu568Gln)
|
|
|
NM_001042492.3(NF1):c.1705A>G (p.Thr569Ala)
|
|
|
NM_001042492.3(NF1):c.170G>A (p.Gly57Asp)
|
rs1555604925
|
|
NM_001042492.3(NF1):c.1715A>G (p.Glu572Gly)
|
|
|
NM_001042492.3(NF1):c.1720A>G (p.Ser574Gly)
|
|
|
NM_001042492.3(NF1):c.1721+453T>G
|
|
|
NM_001042492.3(NF1):c.1721+5A>G
|
rs876658961
|
|
NM_001042492.3(NF1):c.1722-19_1722-13del
|
|
|
NM_001042492.3(NF1):c.1722-26T>C
|
rs1597708542
|
|
NM_001042492.3(NF1):c.1722-29T>C
|
|
|
NM_001042492.3(NF1):c.172C>G (p.Leu58Val)
|
|
|
NM_001042492.3(NF1):c.1747A>G (p.Lys583Glu)
|
|
|
NM_001042492.3(NF1):c.1755A>C (p.Leu585Phe)
|
|
|
NM_001042492.3(NF1):c.1757C>G (p.Thr586Ser)
|
|
|
NM_001042492.3(NF1):c.1759A>C (p.Ser587Arg)
|
rs1597708695
|
|
NM_001042492.3(NF1):c.1759A>G (p.Ser587Gly)
|
rs1597708695
|
|
NM_001042492.3(NF1):c.1762C>T (p.His588Tyr)
|
|
|
NM_001042492.3(NF1):c.1766A>T (p.Gln589Leu)
|
|
|
NM_001042492.3(NF1):c.1767A>T (p.Gln589His)
|
|
|
NM_001042492.3(NF1):c.1771C>G (p.Leu591Val)
|
rs767247726
|
|
NM_001042492.3(NF1):c.1778G>A (p.Ser593Asn)
|
rs2066963100
|
|
NM_001042492.3(NF1):c.1778G>T (p.Ser593Ile)
|
|
|
NM_001042492.3(NF1):c.1789C>T (p.Leu597Phe)
|
rs2066963329
|
|
NM_001042492.3(NF1):c.179C>G (p.Thr60Ser)
|
rs1007047958
|
|
NM_001042492.3(NF1):c.179C>T (p.Thr60Ile)
|
|
|
NM_001042492.3(NF1):c.1801C>G (p.Arg601Gly)
|
|
|
NM_001042492.3(NF1):c.1802G>A (p.Arg601Gln)
|
rs1060500288
|
|
NM_001042492.3(NF1):c.1805A>T (p.Glu602Val)
|
rs1597708772
|
|
NM_001042492.3(NF1):c.1813A>G (p.Ile605Val)
|
rs2144016888
|
|
NM_001042492.3(NF1):c.1817G>A (p.Cys606Tyr)
|
|
|
NM_001042492.3(NF1):c.1817G>T (p.Cys606Phe)
|
|
|
NM_001042492.3(NF1):c.1831C>T (p.Leu611Phe)
|
|
|
NM_001042492.3(NF1):c.1839_1844del (p.Asn614_Lys615del)
|
rs1597708816
|
|
NM_001042492.3(NF1):c.1845+3A>G
|
|
|
NM_001042492.3(NF1):c.1845+5G>A
|
|
|
NM_001042492.3(NF1):c.1846-3T>C
|
rs1555613541
|
|
NM_001042492.3(NF1):c.1846C>G (p.Gln616Glu)
|
rs1555613543
|
|
NM_001042492.3(NF1):c.1852G>A (p.Asp618Asn)
|
|
|
NM_001042492.3(NF1):c.1854T>G (p.Asp618Glu)
|
rs1184750227
|
|
NM_001042492.3(NF1):c.1855A>G (p.Arg619Gly)
|
rs587781821
|
|
NM_001042492.3(NF1):c.1859G>A (p.Ser620Asn)
|
rs1597710354
|
|
NM_001042492.3(NF1):c.1862C>A (p.Ser621Tyr)
|
|
|
NM_001042492.3(NF1):c.1862C>T (p.Ser621Phe)
|
rs760346063
|
|
NM_001042492.3(NF1):c.1864T>G (p.Cys622Gly)
|
|
|
NM_001042492.3(NF1):c.1867C>T (p.His623Tyr)
|
rs759555122
|
|
NM_001042492.3(NF1):c.1868A>G (p.His623Arg)
|
rs1555613555
|
|
NM_001042492.3(NF1):c.1871T>C (p.Phe624Ser)
|
rs1597710397
|
|
NM_001042492.3(NF1):c.1874T>A (p.Leu625His)
|
|
|
NM_001042492.3(NF1):c.1877T>C (p.Leu626Pro)
|
rs752591958
|
|
NM_001042492.3(NF1):c.1888G>A (p.Val630Ile)
|
rs751795238
|
|
NM_001042492.3(NF1):c.1888G>T (p.Val630Leu)
|
rs751795238
|
|
NM_001042492.3(NF1):c.1892G>A (p.Gly631Glu)
|
rs876660272
|
|
NM_001042492.3(NF1):c.1892G>T (p.Gly631Val)
|
rs876660272
|
|
NM_001042492.3(NF1):c.1895G>A (p.Cys632Tyr)
|
rs1567846698
|
|
NM_001042492.3(NF1):c.1898A>C (p.Asp633Ala)
|
|
|
NM_001042492.3(NF1):c.189G>C (p.Lys63Asn)
|
rs2143627434
|
|
NM_001042492.3(NF1):c.1911T>G (p.Ser637Arg)
|
rs1456848774
|
|
NM_001042492.3(NF1):c.1916A>G (p.Asn639Ser)
|
rs1060500275
|
|
NM_001042492.3(NF1):c.1919C>G (p.Thr640Ser)
|
rs1555613573
|
|
NM_001042492.3(NF1):c.1919C>T (p.Thr640Ile)
|
rs1555613573
|
|
NM_001042492.3(NF1):c.1923T>A (p.Ser641Arg)
|
rs1555613576
|
|
NM_001042492.3(NF1):c.1929G>A (p.Met643Ile)
|
rs2144026901
|
|
NM_001042492.3(NF1):c.1930T>C (p.Ser644Pro)
|
|
|
NM_001042492.3(NF1):c.1935G>A (p.Met645Ile)
|
rs1597710605
|
|
NM_001042492.3(NF1):c.1940A>G (p.His647Arg)
|
rs1170252879
|
|
NM_001042492.3(NF1):c.1941T>A (p.His647Gln)
|
rs1397958327
|
|
NM_001042492.3(NF1):c.1949TAC[1] (p.Leu651del)
|
|
|
NM_001042492.3(NF1):c.1950A>C (p.Leu650Phe)
|
rs1597710650
|
|
NM_001042492.3(NF1):c.1954C>G (p.Arg652Gly)
|
|
|
NM_001042492.3(NF1):c.1960C>A (p.Pro654Thr)
|
rs765281937
|
|
NM_001042492.3(NF1):c.1960C>T (p.Pro654Ser)
|
rs765281937
|
|
NM_001042492.3(NF1):c.1961C>T (p.Pro654Leu)
|
rs1597710728
|
|
NM_001042492.3(NF1):c.1964G>A (p.Gly655Glu)
|
|
|
NM_001042492.3(NF1):c.1964G>C (p.Gly655Ala)
|
rs1555613596
|
|
NM_001042492.3(NF1):c.1966G>A (p.Ala656Thr)
|
rs1555613598
|
|
NM_001042492.3(NF1):c.1966G>T (p.Ala656Ser)
|
|
|
NM_001042492.3(NF1):c.1970C>T (p.Ser657Phe)
|
|
|
NM_001042492.3(NF1):c.1976G>T (p.Arg659Leu)
|
|
|
NM_001042492.3(NF1):c.197A>G (p.Asn66Ser)
|
|
|
NM_001042492.3(NF1):c.1981G>A (p.Gly661Arg)
|
rs2066993430
|
|
NM_001042492.3(NF1):c.1984A>G (p.Lys662Glu)
|
rs1597710793
|
|
NM_001042492.3(NF1):c.1994_2001+7del
|
|
|
NM_001042492.3(NF1):c.1996T>A (p.Ser666Thr)
|
|
|
NM_001042492.3(NF1):c.1996T>C (p.Ser666Pro)
|
rs876659281
|
|
NM_001042492.3(NF1):c.1996T>G (p.Ser666Ala)
|
rs876659281
|
|
NM_001042492.3(NF1):c.2001+4A>G
|
|
|
NM_001042492.3(NF1):c.2001+5G>A
|
|
|
NM_001042492.3(NF1):c.2001G>A (p.Met667Ile)
|
rs1597710853
|
|
NM_001042492.3(NF1):c.2002-5C>G
|
rs1165625614
|
|
NM_001042492.3(NF1):c.2002G>A (p.Asp668Asn)
|
rs1445299269
|
|
NM_001042492.3(NF1):c.2002G>C (p.Asp668His)
|
|
|
NM_001042492.3(NF1):c.2012C>G (p.Ala671Gly)
|
rs760900648
|
|
NM_001042492.3(NF1):c.2014G>A (p.Gly672Arg)
|
rs786202632
|
|
NM_001042492.3(NF1):c.2018G>A (p.Cys673Tyr)
|
rs878853872
|
|
NM_001042492.3(NF1):c.2020A>G (p.Ser674Gly)
|
rs1555613753
|
|
NM_001042492.3(NF1):c.2027C>A (p.Thr676Asn)
|
|
|
NM_001042492.3(NF1):c.2027C>T (p.Thr676Ile)
|
rs1294581001
|
|
NM_001042492.3(NF1):c.2032C>A (p.Pro678Thr)
|
rs758691069
|
|
NM_001042492.3(NF1):c.2032C>T (p.Pro678Ser)
|
rs758691069
|
|
NM_001042492.3(NF1):c.2032_2034delinsTCA (p.Pro678Ser)
|
rs1597712318
|
|
NM_001042492.3(NF1):c.2033_2034delinsTA (p.Pro678Leu)
|
rs1597712334
|
|
NM_001042492.3(NF1):c.2035A>G (p.Ile679Val)
|
|
|
NM_001042492.3(NF1):c.2038T>C (p.Cys680Arg)
|
rs1555613775
|
|
NM_001042492.3(NF1):c.203T>C (p.Met68Thr)
|
rs779063198
|
|
NM_001042492.3(NF1):c.204+4A>G
|
rs1555604946
|
|
NM_001042492.3(NF1):c.204+6T>G
|
rs1555604948
|
|
NM_001042492.3(NF1):c.2042G>A (p.Arg681Gln)
|
rs786201768
|
|
NM_001042492.3(NF1):c.2042G>T (p.Arg681Leu)
|
rs786201768
|
|
NM_001042492.3(NF1):c.2044C>G (p.Gln682Glu)
|
|
|
NM_001042492.3(NF1):c.2047G>A (p.Ala683Thr)
|
rs2151425636
|
|
NM_001042492.3(NF1):c.204G>A (p.Met68Ile)
|
rs1441153485
|
|
NM_001042492.3(NF1):c.205-16A>G
|
rs2143645089
|
|
NM_001042492.3(NF1):c.205-31_205-28del
|
|
|
NM_001042492.3(NF1):c.2050C>G (p.Gln684Glu)
|
rs2067016517
|
|
NM_001042492.3(NF1):c.2051A>C (p.Gln684Pro)
|
rs201076784
|
|
NM_001042492.3(NF1):c.2054C>A (p.Thr685Asn)
|
rs876658190
|
|
NM_001042492.3(NF1):c.2060T>A (p.Leu687Gln)
|
|
|
NM_001042492.3(NF1):c.2062G>C (p.Glu688Gln)
|
rs1555613784
|
|
NM_001042492.3(NF1):c.2068G>A (p.Ala690Thr)
|
|
|
NM_001042492.3(NF1):c.2068G>T (p.Ala690Ser)
|
|
|
NM_001042492.3(NF1):c.206G>T (p.Arg69Ile)
|
rs1216707810
|
|
NM_001042492.3(NF1):c.2075A>T (p.Tyr692Phe)
|
rs1555613792
|
|
NM_001042492.3(NF1):c.2077A>G (p.Met693Val)
|
rs1555613794
|
|
NM_001042492.3(NF1):c.2079G>A (p.Met693Ile)
|
|
|
NM_001042492.3(NF1):c.2080T>C (p.Phe694Leu)
|
rs1597712476
|
|
NM_001042492.3(NF1):c.2095G>C (p.Asp699His)
|
|
|
NM_001042492.3(NF1):c.2098A>G (p.Thr700Ala)
|
rs1555613801
|
|
NM_001042492.3(NF1):c.2102A>C (p.Glu701Ala)
|
|
|
NM_001042492.3(NF1):c.2110C>G (p.Leu704Val)
|
rs1597712521
|
|
NM_001042492.3(NF1):c.2111T>C (p.Leu704Pro)
|
|
|
NM_001042492.3(NF1):c.2116G>A (p.Ala706Thr)
|
rs876658232
|
|
NM_001042492.3(NF1):c.2116G>C (p.Ala706Pro)
|
|
|
NM_001042492.3(NF1):c.2116G>T (p.Ala706Ser)
|
rs876658232
|
|
NM_001042492.3(NF1):c.2119A>C (p.Met707Leu)
|
|
|
NM_001042492.3(NF1):c.2120T>C (p.Met707Thr)
|
|
|
NM_001042492.3(NF1):c.2126G>T (p.Cys709Phe)
|
|
|
NM_001042492.3(NF1):c.2128T>G (p.Phe710Val)
|
|
|
NM_001042492.3(NF1):c.2131C>T (p.Arg711Cys)
|
rs1400902839
|
|
NM_001042492.3(NF1):c.2134C>T (p.His712Tyr)
|
|
|
NM_001042492.3(NF1):c.2135A>G (p.His712Arg)
|
rs199474727
|
|
NM_001042492.3(NF1):c.2144A>T (p.Glu715Val)
|
rs2067018762
|
|
NM_001042492.3(NF1):c.214G>A (p.Gly72Arg)
|
|
|
NM_001042492.3(NF1):c.2155A>G (p.Ile719Val)
|
|
|
NM_001042492.3(NF1):c.215G>C (p.Gly72Ala)
|
|
|
NM_001042492.3(NF1):c.2161T>C (p.Cys721Arg)
|
rs1597712637
|
|
NM_001042492.3(NF1):c.2162G>T (p.Cys721Phe)
|
rs2067019239
|
|
NM_001042492.3(NF1):c.2164G>C (p.Gly722Arg)
|
|
|
NM_001042492.3(NF1):c.2165G>A (p.Gly722Glu)
|
rs2151425948
|
|
NM_001042492.3(NF1):c.2177T>G (p.Val726Gly)
|
|
|
NM_001042492.3(NF1):c.2186A>T (p.His729Leu)
|
|
|
NM_001042492.3(NF1):c.2192T>C (p.Leu731Pro)
|
|
|
NM_001042492.3(NF1):c.2198C>T (p.Pro733Leu)
|
|
|
NM_001042492.3(NF1):c.2201_2215del (p.Asn734_Phe738del)
|
|
|
NM_001042492.3(NF1):c.2206A>C (p.Asn736His)
|
rs1567847621
|
|
NM_001042492.3(NF1):c.2209A>G (p.Thr737Ala)
|
|
|
NM_001042492.3(NF1):c.2212T>A (p.Phe738Ile)
|
|
|
NM_001042492.3(NF1):c.221C>T (p.Ala74Val)
|
rs199474726
|
|
NM_001042492.3(NF1):c.2220G>T (p.Glu740Asp)
|
rs2067020397
|
|
NM_001042492.3(NF1):c.2221T>A (p.Phe741Ile)
|
rs533819802
|
|
NM_001042492.3(NF1):c.2230G>A (p.Val744Ile)
|
rs786201833
|
|
NM_001042492.3(NF1):c.2233A>G (p.Ser745Gly)
|
rs786201865
|
|
NM_001042492.3(NF1):c.2237A>G (p.Asn746Ser)
|
rs1176567641
|
|
NM_001042492.3(NF1):c.2239A>G (p.Met747Val)
|
rs1471232737
|
|
NM_001042492.3(NF1):c.223G>A (p.Ala75Thr)
|
rs1597629733
|
|
NM_001042492.3(NF1):c.2241G>A (p.Met747Ile)
|
rs1597712751
|
|
NM_001042492.3(NF1):c.2251+11A>G
|
|
|
NM_001042492.3(NF1):c.2251+4A>T
|
rs2067021300
|
|
NM_001042492.3(NF1):c.2252G>C (p.Gly751Ala)
|
|
|
NM_001042492.3(NF1):c.2255G>C (p.Arg752Thr)
|
|
|
NM_001042492.3(NF1):c.2258C>A (p.Ala753Glu)
|
|
|
NM_001042492.3(NF1):c.2260G>A (p.Ala754Thr)
|
rs1597713272
|
|
NM_001042492.3(NF1):c.2261C>G (p.Ala754Gly)
|
rs1555613912
|
|
NM_001042492.3(NF1):c.2271A>T (p.Lys757Asn)
|
rs1555613916
|
|
NM_001042492.3(NF1):c.2275G>C (p.Val759Leu)
|
|
|
NM_001042492.3(NF1):c.2275G>T (p.Val759Leu)
|
rs978948341
|
|
NM_001042492.3(NF1):c.2278A>G (p.Met760Val)
|
|
|
NM_001042492.3(NF1):c.2278A>T (p.Met760Leu)
|
rs1191883088
|
|
NM_001042492.3(NF1):c.2278_2286dup (p.Leu762_Leu763insMetAlaLeu)
|
|
|
NM_001042492.3(NF1):c.2281G>A (p.Ala761Thr)
|
rs786202504
|
|
NM_001042492.3(NF1):c.2287C>G (p.Leu763Val)
|
rs1597713340
|
|
NM_001042492.3(NF1):c.2294G>T (p.Arg765Leu)
|
rs199474777
|
|
NM_001042492.3(NF1):c.2304T>G (p.His768Gln)
|
rs1597713390
|
|
NM_001042492.3(NF1):c.2308A>T (p.Thr770Ser)
|
|
|
NM_001042492.3(NF1):c.2312C>T (p.Ala771Val)
|
rs1555613928
|
|
NM_001042492.3(NF1):c.2320A>G (p.Thr774Ala)
|
rs2151427000
|
|
NM_001042492.3(NF1):c.2321C>T (p.Thr774Ile)
|
rs917302286
|
|
NM_001042492.3(NF1):c.2325+4T>C
|
rs1555613934
|
|
NM_001042492.3(NF1):c.2325+5G>T
|
rs1597713425
|
|
NM_001042492.3(NF1):c.2326-5T>C
|
rs1131691086
|
|
NM_001042492.3(NF1):c.2326G>T (p.Ala776Ser)
|
rs199474771
|
|
NM_001042492.3(NF1):c.232_234del (p.Asn78del)
|
rs1555605367
|
|
NM_001042492.3(NF1):c.2336A>T (p.Asp779Val)
|
|
|
NM_001042492.3(NF1):c.2337T>G (p.Asp779Glu)
|
rs1555613989
|
|
NM_001042492.3(NF1):c.2338A>G (p.Thr780Ala)
|
rs1205746953
|
|
NM_001042492.3(NF1):c.233A>G (p.Asn78Ser)
|
rs561555410
|
|
NM_001042492.3(NF1):c.2341C>T (p.His781Tyr)
|
rs1443362216
|
|
NM_001042492.3(NF1):c.2344G>T (p.Ala782Ser)
|
rs1352143970
|
|
NM_001042492.3(NF1):c.234T>A (p.Asn78Lys)
|
rs876658354
|
|
NM_001042492.3(NF1):c.2353G>A (p.Glu785Lys)
|
rs1597713756
|
|
NM_001042492.3(NF1):c.2355A>C (p.Glu785Asp)
|
|
|
NM_001042492.3(NF1):c.2356C>A (p.Gln786Lys)
|
rs1555613999
|
|
NM_001042492.3(NF1):c.2357A>G (p.Gln786Arg)
|
|
|
NM_001042492.3(NF1):c.2374C>T (p.Leu792Phe)
|
rs1555614005
|
|
NM_001042492.3(NF1):c.237A>T (p.Leu79Phe)
|
rs752208826
|
|
NM_001042492.3(NF1):c.2390C>T (p.Ala797Val)
|
rs1181350360
|
|
NM_001042492.3(NF1):c.2392A>G (p.Lys798Glu)
|
rs1135402830
|
|
NM_001042492.3(NF1):c.2393A>G (p.Lys798Arg)
|
|
|
NM_001042492.3(NF1):c.2395A>T (p.Met799Leu)
|
rs1060500317
|
|
NM_001042492.3(NF1):c.239A>C (p.Tyr80Ser)
|
rs4795581
|
|
NM_001042492.3(NF1):c.239A>G (p.Tyr80Cys)
|
rs4795581
|
|
NM_001042492.3(NF1):c.2405G>A (p.Gly802Asp)
|
rs752404130
|
|
NM_001042492.3(NF1):c.2407C>G (p.Gln803Glu)
|
|
|
NM_001042492.3(NF1):c.2408A>C (p.Gln803Pro)
|
|
|
NM_001042492.3(NF1):c.2409+3A>G
|
|
|
NM_001042492.3(NF1):c.2410G>C (p.Ala804Pro)
|
rs761109477
|
|
NM_001042492.3(NF1):c.241C>T (p.Leu81Phe)
|
|
|
NM_001042492.3(NF1):c.2420G>A (p.Ser807Asn)
|
rs1597715090
|
|
NM_001042492.3(NF1):c.2428A>G (p.Lys810Glu)
|
rs2151428832
|
|
NM_001042492.3(NF1):c.2431A>G (p.Thr811Ala)
|
|
|
NM_001042492.3(NF1):c.2440A>G (p.Lys814Glu)
|
rs1555614184
|
|
NM_001042492.3(NF1):c.2441A>C (p.Lys814Thr)
|
rs1555614185
|
|
NM_001042492.3(NF1):c.2443A>G (p.Arg815Gly)
|
|
|
NM_001042492.3(NF1):c.2444G>A (p.Arg815Lys)
|
rs1597715123
|
|
NM_001042492.3(NF1):c.2444G>C (p.Arg815Thr)
|
|
|
NM_001042492.3(NF1):c.2446C>G (p.Arg816Gly)
|
|
|
NM_001042492.3(NF1):c.2450T>C (p.Met817Thr)
|
rs1597715147
|
|
NM_001042492.3(NF1):c.2455C>T (p.His819Tyr)
|
rs1597715162
|
|
NM_001042492.3(NF1):c.2456A>G (p.His819Arg)
|
rs786202297
|
|
NM_001042492.3(NF1):c.2462G>A (p.Ser821Asn)
|
rs1303972238
|
|
NM_001042492.3(NF1):c.2464G>A (p.Gly822Arg)
|
rs2067065463
|
|
NM_001042492.3(NF1):c.2464GGA[2] (p.Gly824del)
|
|
|
NM_001042492.3(NF1):c.2465G>A (p.Gly822Glu)
|
|
|
NM_001042492.3(NF1):c.2467G>A (p.Gly823Arg)
|
rs1597715196
|
|
NM_001042492.3(NF1):c.2468G>C (p.Gly823Ala)
|
|
|
NM_001042492.3(NF1):c.2473T>G (p.Ser825Ala)
|
|
|
NM_001042492.3(NF1):c.2479G>A (p.Asp827Asn)
|
rs1597715215
|
|
NM_001042492.3(NF1):c.2482T>G (p.Leu828Val)
|
|
|
NM_001042492.3(NF1):c.2485T>G (p.Ser829Ala)
|
rs1555614202
|
|
NM_001042492.3(NF1):c.2486C>T (p.Ser829Phe)
|
rs1567848794
|
|
NM_001042492.3(NF1):c.2491A>G (p.Thr831Ala)
|
rs1555614204
|
|
NM_001042492.3(NF1):c.2492_2493delinsAATCT (p.Thr831delinsLysSer)
|
rs1597715231
|
|
NM_001042492.3(NF1):c.2495A>G (p.Asp832Gly)
|
rs1060500283
|
|
NM_001042492.3(NF1):c.2498C>A (p.Ser833Tyr)
|
|
|
NM_001042492.3(NF1):c.250T>G (p.Leu84Val)
|
|
|
NM_001042492.3(NF1):c.2512A>G (p.Ile838Val)
|
rs1555614212
|
|
NM_001042492.3(NF1):c.2517C>G (p.Asn839Lys)
|
|
|
NM_001042492.3(NF1):c.2518A>G (p.Met840Val)
|
rs779931789
|
|
NM_001042492.3(NF1):c.2520G>A (p.Met840Ile)
|
|
|
NM_001042492.3(NF1):c.2524G>A (p.Gly842Ser)
|
|
|
NM_001042492.3(NF1):c.2525G>A (p.Gly842Asp)
|
rs1597715290
|
|
NM_001042492.3(NF1):c.2527T>G (p.Phe843Val)
|
rs2151429055
|
|
NM_001042492.3(NF1):c.2527_2528delinsGA (p.Phe843Asp)
|
|
|
NM_001042492.3(NF1):c.2528T>A (p.Phe843Tyr)
|
|
|
NM_001042492.3(NF1):c.252G>T (p.Leu84Phe)
|
rs1597629835
|
|
NM_001042492.3(NF1):c.2549T>C (p.Val850Ala)
|
rs1424956205
|
|
NM_001042492.3(NF1):c.2549T>G (p.Val850Gly)
|
|
|
NM_001042492.3(NF1):c.2554C>T (p.Leu852Phe)
|
rs747579293
|
|
NM_001042492.3(NF1):c.2567G>A (p.Ser856Asn)
|
rs2151429147
|
|
NM_001042492.3(NF1):c.2569A>C (p.Asn857His)
|
rs1060500259
|
|
NM_001042492.3(NF1):c.2570A>T (p.Asn857Ile)
|
|
|
NM_001042492.3(NF1):c.2572T>C (p.Ser858Pro)
|
rs587778550
|
|
NM_001042492.3(NF1):c.2578C>G (p.Leu860Val)
|
rs1597715404
|
|
NM_001042492.3(NF1):c.2581G>A (p.Ala861Thr)
|
rs768425956
|
|
NM_001042492.3(NF1):c.2582C>A (p.Ala861Glu)
|
rs1555614266
|
|
NM_001042492.3(NF1):c.2584A>G (p.Thr862Ala)
|
rs1597715417
|
|
NM_001042492.3(NF1):c.2585C>A (p.Thr862Asn)
|
|
|
NM_001042492.3(NF1):c.2588A>G (p.Tyr863Cys)
|
rs1344682851
|
|
NM_001042492.3(NF1):c.2594C>T (p.Pro865Leu)
|
rs786203084
|
|
NM_001042492.3(NF1):c.2599A>G (p.Met867Val)
|
rs864622715
|
|
NM_001042492.3(NF1):c.2608G>A (p.Val870Ile)
|
|
|
NM_001042492.3(NF1):c.2608G>C (p.Val870Leu)
|
|
|
NM_001042492.3(NF1):c.2611A>G (p.Ser871Gly)
|
rs2067069318
|
|
NM_001042492.3(NF1):c.2614G>A (p.Glu872Lys)
|
|
|
NM_001042492.3(NF1):c.2615A>G (p.Glu872Gly)
|
|
|
NM_001042492.3(NF1):c.2617C>A (p.Arg873Ser)
|
|
|
NM_001042492.3(NF1):c.2618G>C (p.Arg873Pro)
|
rs949092641
|
|
NM_001042492.3(NF1):c.2623G>A (p.Gly875Ser)
|
rs754734571
|
|
NM_001042492.3(NF1):c.2623G>T (p.Gly875Cys)
|
rs754734571
|
|
NM_001042492.3(NF1):c.2630T>C (p.Met877Thr)
|
rs2151429296
|
|
NM_001042492.3(NF1):c.2631G>T (p.Met877Ile)
|
rs1597715515
|
|
NM_001042492.3(NF1):c.2635T>G (p.Ser879Ala)
|
|
|
NM_001042492.3(NF1):c.2641A>G (p.Met881Val)
|
rs1060500263
|
|
NM_001042492.3(NF1):c.2642T>C (p.Met881Thr)
|
rs777868654
|
|
NM_001042492.3(NF1):c.2648C>T (p.Ser883Leu)
|
rs2151429346
|
|
NM_001042492.3(NF1):c.2652G>T (p.Glu884Asp)
|
rs757843283
|
|
NM_001042492.3(NF1):c.2653G>A (p.Gly885Arg)
|
rs1060500272
|
|
NM_001042492.3(NF1):c.2654G>A (p.Gly885Glu)
|
|
|
NM_001042492.3(NF1):c.2654G>C (p.Gly885Ala)
|
|
|
NM_001042492.3(NF1):c.2658C>A (p.Asn886Lys)
|
|
|
NM_001042492.3(NF1):c.2658C>G (p.Asn886Lys)
|
rs781549970
|
|
NM_001042492.3(NF1):c.2660C>G (p.Ala887Gly)
|
|
|
NM_001042492.3(NF1):c.2660C>T (p.Ala887Val)
|
rs1567849029
|
|
NM_001042492.3(NF1):c.2666C>A (p.Thr889Lys)
|
|
|
NM_001042492.3(NF1):c.2666C>T (p.Thr889Ile)
|
|
|
NM_001042492.3(NF1):c.2668C>T (p.Pro890Ser)
|
rs771012891
|
|
NM_001042492.3(NF1):c.266C>A (p.Thr89Lys)
|
rs1555605392
|
|
NM_001042492.3(NF1):c.2671G>A (p.Val891Ile)
|
rs1060500256
|
|
NM_001042492.3(NF1):c.2671G>C (p.Val891Leu)
|
rs1060500256
|
|
NM_001042492.3(NF1):c.2674A>T (p.Ser892Cys)
|
rs746324091
|
|
NM_001042492.3(NF1):c.2681T>G (p.Phe894Cys)
|
|
|
NM_001042492.3(NF1):c.2683A>G (p.Met895Val)
|
rs876659129
|
|
NM_001042492.3(NF1):c.268C>A (p.Leu90Met)
|
|
|
NM_001042492.3(NF1):c.2698T>A (p.Ser900Thr)
|
|
|
NM_001042492.3(NF1):c.269T>G (p.Leu90Arg)
|
rs1555605393
|
|
NM_001042492.3(NF1):c.2704A>G (p.Met902Val)
|
|
|
NM_001042492.3(NF1):c.2705T>C (p.Met902Thr)
|
|
|
NM_001042492.3(NF1):c.2707G>C (p.Val903Leu)
|
|
|
NM_001042492.3(NF1):c.2711G>A (p.Cys904Tyr)
|
|
|
NM_001042492.3(NF1):c.2713A>T (p.Asn905Tyr)
|
|
|
NM_001042492.3(NF1):c.2714A>G (p.Asn905Ser)
|
|
|
NM_001042492.3(NF1):c.2716C>T (p.His906Tyr)
|
|
|
NM_001042492.3(NF1):c.2726T>C (p.Val909Ala)
|
|
|
NM_001042492.3(NF1):c.2728G>A (p.Gly910Arg)
|
rs1555614314
|
|
NM_001042492.3(NF1):c.2729G>A (p.Gly910Glu)
|
|
|
NM_001042492.3(NF1):c.2732T>A (p.Leu911His)
|
rs1555614315
|
|
NM_001042492.3(NF1):c.274A>G (p.Lys92Glu)
|
rs1555605396
|
|
NM_001042492.3(NF1):c.2755G>A (p.Asp919Asn)
|
rs1597715708
|
|
NM_001042492.3(NF1):c.2757T>A (p.Asp919Glu)
|
rs1131691110
|
|
NM_001042492.3(NF1):c.2758C>A (p.Leu920Met)
|
|
|
NM_001042492.3(NF1):c.2761G>T (p.Val921Leu)
|
|
|
NM_001042492.3(NF1):c.2763G>A (p.Val921=)
|
rs1597715725
|
|
NM_001042492.3(NF1):c.2767C>A (p.Leu923Ile)
|
rs1567849138
|
|
NM_001042492.3(NF1):c.2772A>C (p.Glu924Asp)
|
rs2151429630
|
|
NM_001042492.3(NF1):c.2776A>T (p.Ser926Cys)
|
|
|
NM_001042492.3(NF1):c.2782G>T (p.Ala928Ser)
|
|
|
NM_001042492.3(NF1):c.2794A>C (p.Met932Leu)
|
rs886052800
|
|
NM_001042492.3(NF1):c.2794A>T (p.Met932Leu)
|
rs886052800
|
|
NM_001042492.3(NF1):c.2798T>A (p.Leu933Gln)
|
|
|
NM_001042492.3(NF1):c.2806A>G (p.Lys936Glu)
|
rs1555614345
|
|
NM_001042492.3(NF1):c.2810T>G (p.Leu937Trp)
|
rs1567849184
|
|
NM_001042492.3(NF1):c.2813A>C (p.Lys938Thr)
|
|
|
NM_001042492.3(NF1):c.2815A>G (p.Asn939Asp)
|
|
|
NM_001042492.3(NF1):c.2825G>C (p.Ser942Thr)
|
rs1555614350
|
|
NM_001042492.3(NF1):c.2827A>G (p.Lys943Glu)
|
rs1567849199
|
|
NM_001042492.3(NF1):c.2831T>A (p.Phe944Tyr)
|
|
|
NM_001042492.3(NF1):c.2839T>A (p.Ser947Thr)
|
rs1567849219
|
|
NM_001042492.3(NF1):c.2840C>G (p.Ser947Cys)
|
rs878853879
|
|
NM_001042492.3(NF1):c.284C>G (p.Ala95Gly)
|
rs1567816119
|
|
NM_001042492.3(NF1):c.284C>T (p.Ala95Val)
|
rs1567816119
|
|
NM_001042492.3(NF1):c.2850+2T>C
|
rs1597715880
|
|
NM_001042492.3(NF1):c.2850+4A>G
|
|
|
NM_001042492.3(NF1):c.2855_3113+154dup
|
|
|
NM_001042492.3(NF1):c.2867C>G (p.Thr956Ser)
|
rs1323973848
|
|
NM_001042492.3(NF1):c.2867C>T (p.Thr956Ile)
|
rs1323973848
|
|
NM_001042492.3(NF1):c.2869A>C (p.Asn957His)
|
|
|
NM_001042492.3(NF1):c.286G>T (p.Gly96Trp)
|
rs1597629902
|
|
NM_001042492.3(NF1):c.2870A>G (p.Asn957Ser)
|
|
|
NM_001042492.3(NF1):c.2878T>G (p.Phe960Val)
|
|
|
NM_001042492.3(NF1):c.288+4A>C
|
|
|
NM_001042492.3(NF1):c.2887C>G (p.Gln963Glu)
|
|
|
NM_001042492.3(NF1):c.288G>A (p.Gly96=)
|
rs1430988476
|
|
NM_001042492.3(NF1):c.289-327T>C
|
|
|
NM_001042492.3(NF1):c.2895A>C (p.Ile965=)
|
rs1597716325
|
|
NM_001042492.3(NF1):c.2896G>A (p.Ala966Thr)
|
rs876658849
|
|
NM_001042492.3(NF1):c.2897C>G (p.Ala966Gly)
|
rs1567849533
|
|
NM_001042492.3(NF1):c.2899A>G (p.Ile967Val)
|
rs876660279
|
|
NM_001042492.3(NF1):c.2900T>C (p.Ile967Thr)
|
rs1289091384
|
|
NM_001042492.3(NF1):c.2901A>G (p.Ile967Met)
|
rs2151430624
|
|
NM_001042492.3(NF1):c.2903T>C (p.Met968Thr)
|
|
|
NM_001042492.3(NF1):c.2904G>A (p.Met968Ile)
|
rs1597716342
|
|
NM_001042492.3(NF1):c.2907G>T (p.Lys969Asn)
|
|
|
NM_001042492.3(NF1):c.2915T>C (p.Leu972Pro)
|
rs1597716348
|
|
NM_001042492.3(NF1):c.2918A>G (p.Asp973Gly)
|
|
|
NM_001042492.3(NF1):c.2924A>G (p.His975Arg)
|
|
|
NM_001042492.3(NF1):c.2927C>G (p.Thr976Ser)
|
rs755404523
|
|
NM_001042492.3(NF1):c.2931A>T (p.Glu977Asp)
|
|
|
NM_001042492.3(NF1):c.2933G>A (p.Gly978Asp)
|
rs1597716371
|
|
NM_001042492.3(NF1):c.2938T>A (p.Ser980Thr)
|
|
|
NM_001042492.3(NF1):c.293C>A (p.Pro98Gln)
|
rs780979519
|
|
NM_001042492.3(NF1):c.293C>G (p.Pro98Arg)
|
|
|
NM_001042492.3(NF1):c.2941G>C (p.Glu981Gln)
|
rs1555614449
|
|
NM_001042492.3(NF1):c.2948T>C (p.Leu983Pro)
|
|
|
NM_001042492.3(NF1):c.2951G>A (p.Gly984Glu)
|
|
|
NM_001042492.3(NF1):c.295A>G (p.Lys99Glu)
|
|
|
NM_001042492.3(NF1):c.2972T>C (p.Met991Thr)
|
rs1060500298
|
|
NM_001042492.3(NF1):c.2973G>T (p.Met991Ile)
|
|
|
NM_001042492.3(NF1):c.2975T>C (p.Met992Thr)
|
rs1567849596
|
|
NM_001042492.3(NF1):c.2981A>G (p.Asn994Ser)
|
rs2067085209
|
|
NM_001042492.3(NF1):c.2988C>G (p.Val996=)
|
|
|
NM_001042492.3(NF1):c.2993A>C (p.Tyr998Ser)
|
rs1555614496
|
|
NM_001042492.3(NF1):c.2993A>G (p.Tyr998Cys)
|
rs1555614496
|
|
NM_001042492.3(NF1):c.2993A>T (p.Tyr998Phe)
|
|
|
NM_001042492.3(NF1):c.2999G>T (p.Arg1000Leu)
|
rs753082620
|
|
NM_001042492.3(NF1):c.3005T>C (p.Leu1002Pro)
|
|
|
NM_001042492.3(NF1):c.3014T>C (p.Met1005Thr)
|
rs1555614504
|
|
NM_001042492.3(NF1):c.3017T>C (p.Val1006Ala)
|
rs755636107
|
|
NM_001042492.3(NF1):c.3017T>G (p.Val1006Gly)
|
|
|
NM_001042492.3(NF1):c.3023C>A (p.Ala1008Glu)
|
|
|
NM_001042492.3(NF1):c.3025A>G (p.Ile1009Val)
|
rs1597716866
|
|
NM_001042492.3(NF1):c.3028C>A (p.Gln1010Lys)
|
|
|
NM_001042492.3(NF1):c.3030A>T (p.Gln1010His)
|
|
|
NM_001042492.3(NF1):c.3033A>G (p.Ile1011Met)
|
rs2151431575
|
|
NM_001042492.3(NF1):c.3035A>G (p.Lys1012Arg)
|
rs1597716883
|
|
NM_001042492.3(NF1):c.3036A>C (p.Lys1012Asn)
|
|
|
NM_001042492.3(NF1):c.3037A>C (p.Thr1013Pro)
|
rs1597716888
|
|
NM_001042492.3(NF1):c.3059A>C (p.Glu1020Ala)
|
|
|
NM_001042492.3(NF1):c.3061G>A (p.Val1021Ile)
|
|
|
NM_001042492.3(NF1):c.3062T>C (p.Val1021Ala)
|
|
|
NM_001042492.3(NF1):c.3066G>A (p.Met1022Ile)
|
|
|
NM_001042492.3(NF1):c.3067A>G (p.Met1023Val)
|
|
|
NM_001042492.3(NF1):c.3069G>T (p.Met1023Ile)
|
|
|
NM_001042492.3(NF1):c.3070G>A (p.Ala1024Thr)
|
rs786203657
|
|
NM_001042492.3(NF1):c.3070G>T (p.Ala1024Ser)
|
rs786203657
|
|
NM_001042492.3(NF1):c.3071C>T (p.Ala1024Val)
|
rs1555614525
|
|
NM_001042492.3(NF1):c.3074G>A (p.Arg1025Lys)
|
rs876659876
|
|
NM_001042492.3(NF1):c.3078A>C (p.Arg1026Ser)
|
rs1597716965
|
|
NM_001042492.3(NF1):c.3084C>A (p.Asp1028Glu)
|
|
|
NM_001042492.3(NF1):c.3085C>T (p.Leu1029Phe)
|
rs1597716976
|
|
NM_001042492.3(NF1):c.3086T>C (p.Leu1029Pro)
|
rs2067092609
|
|
NM_001042492.3(NF1):c.308G>C (p.Arg103Thr)
|
|
|
NM_001042492.3(NF1):c.3104T>C (p.Met1035Thr)
|
rs137854553
|
|
NM_001042492.3(NF1):c.3105G>A (p.Met1035Ile)
|
|
|
NM_001042492.3(NF1):c.3107A>G (p.Lys1036Arg)
|
rs1555614540
|
|
NM_001042492.3(NF1):c.3114-4A>C
|
rs201550230
|
|
NM_001042492.3(NF1):c.3114G>C (p.Arg1038Ser)
|
rs1555614616
|
|
NM_001042492.3(NF1):c.3117T>A (p.Asn1039Lys)
|
rs1597717516
|
|
NM_001042492.3(NF1):c.3119A>C (p.Lys1040Thr)
|
|
|
NM_001042492.3(NF1):c.3121A>G (p.Met1041Val)
|
|
|
NM_001042492.3(NF1):c.3122T>A (p.Met1041Lys)
|
rs2151432359
|
|
NM_001042492.3(NF1):c.3129A>C (p.Glu1043Asp)
|
rs1597717530
|
|
NM_001042492.3(NF1):c.3130T>A (p.Tyr1044Asn)
|
rs1597717533
|
|
NM_001042492.3(NF1):c.3130T>C (p.Tyr1044His)
|
|
|
NM_001042492.3(NF1):c.3150G>A (p.Met1050Ile)
|
rs1555614639
|
|
NM_001042492.3(NF1):c.3154A>G (p.Thr1052Ala)
|
rs1597717598
|
|
NM_001042492.3(NF1):c.3162C>G (p.Asn1054Lys)
|
|
|
NM_001042492.3(NF1):c.3167C>T (p.Ala1056Val)
|
rs759655189
|
|
NM_001042492.3(NF1):c.3172G>A (p.Asp1058Asn)
|
rs1597717634
|
|
NM_001042492.3(NF1):c.3173A>G (p.Asp1058Gly)
|
rs1387858614
|
|
NM_001042492.3(NF1):c.3173ATG[2] (p.Asp1060del)
|
rs1597717639
|
|
NM_001042492.3(NF1):c.3173_3174delinsCA (p.Asp1058Ala)
|
rs2067102400
|
|
NM_001042492.3(NF1):c.3175G>C (p.Asp1059His)
|
|
|
NM_001042492.3(NF1):c.3176A>T (p.Asp1059Val)
|
rs1597717658
|
|
NM_001042492.3(NF1):c.3179A>T (p.Asp1060Val)
|
rs1597717664
|
|
NM_001042492.3(NF1):c.3184A>G (p.Lys1062Glu)
|
rs2151432521
|
|
NM_001042492.3(NF1):c.3185A>T (p.Lys1062Ile)
|
rs1314168961
|
|
NM_001042492.3(NF1):c.3186A>T (p.Lys1062Asn)
|
|
|
NM_001042492.3(NF1):c.3187T>C (p.Cys1063Arg)
|
rs776079267
|
|
NM_001042492.3(NF1):c.3191T>C (p.Leu1064Pro)
|
|
|
NM_001042492.3(NF1):c.3194C>G (p.Thr1065Arg)
|
|
|
NM_001042492.3(NF1):c.3197G>C (p.Arg1066Thr)
|
rs1555614652
|
|
NM_001042492.3(NF1):c.3198-330A>G
|
|
|
NM_001042492.3(NF1):c.3198-4_3198-3insGT
|
rs745559136
|
|
NM_001042492.3(NF1):c.3198-5T>G
|
rs587782639
|
|
NM_001042492.3(NF1):c.320C>G (p.Thr107Arg)
|
rs1567817857
|
|
NM_001042492.3(NF1):c.320C>T (p.Thr107Met)
|
rs1567817857
|
|
NM_001042492.3(NF1):c.3212C>A (p.Ala1071Glu)
|
|
|
NM_001042492.3(NF1):c.3212C>T (p.Ala1071Val)
|
rs2151433685
|
|
NM_001042492.3(NF1):c.3216C>A (p.Ser1072Arg)
|
rs1567850647
|
|
NM_001042492.3(NF1):c.3216C>G (p.Ser1072Arg)
|
rs1567850647
|
|
NM_001042492.3(NF1):c.3218T>G (p.Met1073Arg)
|
rs1555614827
|
|
NM_001042492.3(NF1):c.3219G>C (p.Met1073Ile)
|
|
|
NM_001042492.3(NF1):c.3220G>A (p.Glu1074Lys)
|
|
|
NM_001042492.3(NF1):c.3229G>C (p.Val1077Leu)
|
|
|
NM_001042492.3(NF1):c.3235C>A (p.Leu1079Ile)
|
|
|
NM_001042492.3(NF1):c.3235C>T (p.Leu1079Phe)
|
|
|
NM_001042492.3(NF1):c.323T>C (p.Met108Thr)
|
rs780233935
|
|
NM_001042492.3(NF1):c.3241G>C (p.Ala1081Pro)
|
rs1555614834
|
|
NM_001042492.3(NF1):c.3245G>A (p.Gly1082Asp)
|
|
|
NM_001042492.3(NF1):c.3250C>G (p.Pro1084Ala)
|
rs1555614848
|
|
NM_001042492.3(NF1):c.3250C>T (p.Pro1084Ser)
|
rs1555614848
|
|
NM_001042492.3(NF1):c.3266A>G (p.Glu1089Gly)
|
|
|
NM_001042492.3(NF1):c.3267A>C (p.Glu1089Asp)
|
|
|
NM_001042492.3(NF1):c.3267A>T (p.Glu1089Asp)
|
|
|
NM_001042492.3(NF1):c.3269G>A (p.Gly1090Glu)
|
|
|
NM_001042492.3(NF1):c.3273T>A (p.Asp1091Glu)
|
rs1131691124
|
|
NM_001042492.3(NF1):c.3274G>A (p.Gly1092Ser)
|
rs1457169236
|
|
NM_001042492.3(NF1):c.3274G>C (p.Gly1092Arg)
|
rs1457169236
|
|
NM_001042492.3(NF1):c.3275G>C (p.Gly1092Ala)
|
|
|
NM_001042492.3(NF1):c.3289G>A (p.Glu1097Lys)
|
rs1555614865
|
|
NM_001042492.3(NF1):c.328G>A (p.Val110Ile)
|
|
|
NM_001042492.3(NF1):c.3292G>A (p.Ala1098Thr)
|
|
|
NM_001042492.3(NF1):c.3295A>C (p.Lys1099Gln)
|
|
|
NM_001042492.3(NF1):c.3308T>G (p.Phe1103Cys)
|
rs1597718879
|
|
NM_001042492.3(NF1):c.3313A>G (p.Lys1105Glu)
|
rs1555614867
|
|
NM_001042492.3(NF1):c.3315-5C>G
|
|
|
NM_001042492.3(NF1):c.3315A>T (p.Lys1105Asn)
|
|
|
NM_001042492.3(NF1):c.332A>G (p.Lys111Arg)
|
|
|
NM_001042492.3(NF1):c.3336C>A (p.Asn1112Lys)
|
rs1060500262
|
|
NM_001042492.3(NF1):c.3336C>G (p.Asn1112Lys)
|
rs1060500262
|
|
NM_001042492.3(NF1):c.3347A>C (p.Asp1116Ala)
|
rs1597719439
|
|
NM_001042492.3(NF1):c.3358G>A (p.Val1120Ile)
|
rs200594167
|
|
NM_001042492.3(NF1):c.3361G>A (p.Glu1121Lys)
|
rs1567851029
|
|
NM_001042492.3(NF1):c.3365A>G (p.Asp1122Gly)
|
rs1597719461
|
|
NM_001042492.3(NF1):c.3368A>G (p.Glu1123Gly)
|
rs1410465727
|
|
NM_001042492.3(NF1):c.3370A>G (p.Ser1124Gly)
|
|
|
NM_001042492.3(NF1):c.3371G>T (p.Ser1124Ile)
|
rs374472758
|
|
NM_001042492.3(NF1):c.3380C>T (p.Thr1127Ile)
|
|
|
NM_001042492.3(NF1):c.3383G>A (p.Gly1128Asp)
|
rs1060500325
|
|
NM_001042492.3(NF1):c.3383G>C (p.Gly1128Ala)
|
rs1060500325
|
|
NM_001042492.3(NF1):c.3391A>C (p.Lys1131Gln)
|
rs2067135932
|
|
NM_001042492.3(NF1):c.3397G>A (p.Gly1133Ser)
|
|
|
NM_001042492.3(NF1):c.3402G>A (p.Met1134Ile)
|
rs587782701
|
|
NM_001042492.3(NF1):c.3404C>G (p.Ser1135Cys)
|
|
|
NM_001042492.3(NF1):c.3407G>C (p.Arg1136Pro)
|
rs868407539
|
|
NM_001042492.3(NF1):c.3415G>A (p.Ala1139Thr)
|
rs587778551
|
|
NM_001042492.3(NF1):c.3415G>C (p.Ala1139Pro)
|
|
|
NM_001042492.3(NF1):c.3416C>T (p.Ala1139Val)
|
|
|
NM_001042492.3(NF1):c.3428A>G (p.His1143Arg)
|
rs1555614965
|
|
NM_001042492.3(NF1):c.3430T>C (p.Cys1144Arg)
|
rs2067136902
|
|
NM_001042492.3(NF1):c.3433A>G (p.Thr1145Ala)
|
rs1450606511
|
|
NM_001042492.3(NF1):c.3437T>C (p.Val1146Ala)
|
|
|
NM_001042492.3(NF1):c.3437T>G (p.Val1146Gly)
|
|
|
NM_001042492.3(NF1):c.3443C>T (p.Ala1148Val)
|
|
|
NM_001042492.3(NF1):c.3446T>G (p.Met1149Arg)
|
rs1131691121
|
|
NM_001042492.3(NF1):c.3455T>C (p.Leu1152Ser)
|
|
|
NM_001042492.3(NF1):c.3457C>A (p.Leu1153Ile)
|
|
|
NM_001042492.3(NF1):c.3457C>T (p.Leu1153Phe)
|
rs2151434781
|
|
NM_001042492.3(NF1):c.3460A>T (p.Asn1154Tyr)
|
|
|
NM_001042492.3(NF1):c.3472G>T (p.Asp1158Tyr)
|
|
|
NM_001042492.3(NF1):c.3473A>G (p.Asp1158Gly)
|
rs2151434824
|
|
NM_001042492.3(NF1):c.3479G>A (p.Gly1160Asp)
|
rs2067138342
|
|
NM_001042492.3(NF1):c.3484A>T (p.Met1162Leu)
|
rs773968270
|
|
NM_001042492.3(NF1):c.3486G>C (p.Met1162Ile)
|
|
|
NM_001042492.3(NF1):c.3487C>A (p.His1163Asn)
|
|
|
NM_001042492.3(NF1):c.3494T>C (p.Ile1165Thr)
|
rs786204211
|
|
NM_001042492.3(NF1):c.3496+3G>A
|
rs1060500287
|
|
NM_001042492.3(NF1):c.3496+5G>A
|
rs786202564
|
|
NM_001042492.3(NF1):c.3497-2A>G
|
|
|
NM_001042492.3(NF1):c.3497-3T>A
|
|
|
NM_001042492.3(NF1):c.3497-5A>G
|
rs876660405
|
|
NM_001042492.3(NF1):c.3503G>T (p.Gly1168Val)
|
|
|
NM_001042492.3(NF1):c.3506A>G (p.Tyr1169Cys)
|
rs1555615014
|
|
NM_001042492.3(NF1):c.3509A>T (p.His1170Leu)
|
rs1597719889
|
|
NM_001042492.3(NF1):c.350T>G (p.Ile117Ser)
|
rs199474731
|
|
NM_001042492.3(NF1):c.3510C>G (p.His1170Gln)
|
|
|
NM_001042492.3(NF1):c.3515A>G (p.Asp1172Gly)
|
rs1555615017
|
|
NM_001042492.3(NF1):c.3517C>T (p.Leu1173Phe)
|
rs1060500375
|
|
NM_001042492.3(NF1):c.3524C>T (p.Thr1175Ile)
|
rs1555615024
|
|
NM_001042492.3(NF1):c.3530C>A (p.Ala1177Asp)
|
|
|
NM_001042492.3(NF1):c.3533C>G (p.Thr1178Arg)
|
rs1555615025
|
|
NM_001042492.3(NF1):c.3538A>G (p.Met1180Val)
|
rs786203658
|
|
NM_001042492.3(NF1):c.3538A>T (p.Met1180Leu)
|
rs786203658
|
|
NM_001042492.3(NF1):c.3543A>C (p.Glu1181Asp)
|
|
|
NM_001042492.3(NF1):c.3550A>G (p.Thr1184Ala)
|
rs2151435398
|
|
NM_001042492.3(NF1):c.3553A>G (p.Lys1185Glu)
|
rs2151435410
|
|
NM_001042492.3(NF1):c.3557T>C (p.Ile1186Thr)
|
|
|
NM_001042492.3(NF1):c.355C>A (p.His119Asn)
|
rs1555606066
|
|
NM_001042492.3(NF1):c.3563A>G (p.Gln1188Arg)
|
rs758419553
|
|
NM_001042492.3(NF1):c.3565C>G (p.Gln1189Glu)
|
rs878853884
|
|
NM_001042492.3(NF1):c.356A>G (p.His119Arg)
|
rs150080742
|
|
NM_001042492.3(NF1):c.3571A>G (p.Thr1191Ala)
|
rs1555615033
|
|
NM_001042492.3(NF1):c.3577T>A (p.Phe1193Ile)
|
rs2151435475
|
|
NM_001042492.3(NF1):c.3580G>C (p.Asp1194His)
|
|
|
NM_001042492.3(NF1):c.3581A>G (p.Asp1194Gly)
|
|
|
NM_001042492.3(NF1):c.3584C>T (p.Thr1195Ile)
|
|
|
NM_001042492.3(NF1):c.3586C>A (p.Leu1196Ile)
|
|
|
NM_001042492.3(NF1):c.358T>C (p.Phe120Leu)
|
|
|
NM_001042492.3(NF1):c.3590C>T (p.Ala1197Val)
|
rs370820478
|
|
NM_001042492.3(NF1):c.3596C>T (p.Thr1199Ile)
|
rs1555615047
|
|
NM_001042492.3(NF1):c.3598G>C (p.Val1200Leu)
|
|
|
NM_001042492.3(NF1):c.3599T>C (p.Val1200Ala)
|
|
|
NM_001042492.3(NF1):c.3611G>A (p.Arg1204Gln)
|
rs1057521848
|
|
NM_001042492.3(NF1):c.3617A>G (p.Glu1206Gly)
|
rs1597720070
|
|
NM_001042492.3(NF1):c.3625G>T (p.Val1209Leu)
|
rs1458579232
|
|
NM_001042492.3(NF1):c.3634G>A (p.Val1212Ile)
|
rs1597720116
|
|
NM_001042492.3(NF1):c.3635T>G (p.Val1212Gly)
|
|
|
NM_001042492.3(NF1):c.3646G>T (p.Gly1216Cys)
|
rs1567851424
|
|
NM_001042492.3(NF1):c.364C>T (p.His122Tyr)
|
rs587782107
|
|
NM_001042492.3(NF1):c.3653A>G (p.Gln1218Arg)
|
rs876659541
|
|
NM_001042492.3(NF1):c.3660A>T (p.Glu1220Asp)
|
rs1597720161
|
|
NM_001042492.3(NF1):c.3661C>T (p.Leu1221Phe)
|
|
|
NM_001042492.3(NF1):c.3662T>C (p.Leu1221Pro)
|
rs1597720167
|
|
NM_001042492.3(NF1):c.3664C>G (p.Pro1222Ala)
|
rs1555615088
|
|
NM_001042492.3(NF1):c.3664C>T (p.Pro1222Ser)
|
rs1555615088
|
|
NM_001042492.3(NF1):c.3667A>G (p.Ile1223Val)
|
rs1567851470
|
|
NM_001042492.3(NF1):c.3668T>C (p.Ile1223Thr)
|
|
|
NM_001042492.3(NF1):c.3671C>G (p.Ala1224Gly)
|
rs1060500340
|
|
NM_001042492.3(NF1):c.3671C>T (p.Ala1224Val)
|
rs1060500340
|
|
NM_001042492.3(NF1):c.3673A>G (p.Met1225Val)
|
rs770837892
|
|
NM_001042492.3(NF1):c.3675G>A (p.Met1225Ile)
|
|
|
NM_001042492.3(NF1):c.3679C>G (p.Leu1227Val)
|
rs876660431
|
|
NM_001042492.3(NF1):c.3683C>T (p.Ala1228Val)
|
rs1060500315
|
|
NM_001042492.3(NF1):c.3685A>T (p.Asn1229Tyr)
|
rs1555615102
|
|
NM_001042492.3(NF1):c.368C>A (p.Thr123Asn)
|
rs878853886
|
|
NM_001042492.3(NF1):c.368C>G (p.Thr123Ser)
|
|
|
NM_001042492.3(NF1):c.3691G>A (p.Val1231Ile)
|
|
|
NM_001042492.3(NF1):c.3691G>C (p.Val1231Leu)
|
|
|
NM_001042492.3(NF1):c.3691G>T (p.Val1231Phe)
|
rs1597720248
|
|
NM_001042492.3(NF1):c.3695C>T (p.Pro1232Leu)
|
rs2067145287
|
|
NM_001042492.3(NF1):c.3706T>C (p.Trp1236Arg)
|
rs1555615111
|
|
NM_001042492.3(NF1):c.3709-5C>T
|
rs1390680821
|
|
NM_001042492.3(NF1):c.370T>G (p.Cys124Gly)
|
|
|
NM_001042492.3(NF1):c.3712G>A (p.Glu1238Lys)
|
|
|
NM_001042492.3(NF1):c.3714A>T (p.Glu1238Asp)
|
|
|
NM_001042492.3(NF1):c.3718G>C (p.Ala1240Pro)
|
|
|
NM_001042492.3(NF1):c.3719C>T (p.Ala1240Val)
|
rs2067185676
|
|
NM_001042492.3(NF1):c.371G>T (p.Cys124Phe)
|
|
|
NM_001042492.3(NF1):c.3727C>G (p.Leu1243Val)
|
|
|
NM_001042492.3(NF1):c.3733A>T (p.Thr1245Ser)
|
rs786203616
|
|
NM_001042492.3(NF1):c.3734C>G (p.Thr1245Ser)
|
rs1363534157
|
|
NM_001042492.3(NF1):c.3736C>G (p.Leu1246Val)
|
rs1567852501
|
|
NM_001042492.3(NF1):c.373C>A (p.Arg125Ser)
|
rs876659418
|
|
NM_001042492.3(NF1):c.373C>G (p.Arg125Gly)
|
rs876659418
|
|
NM_001042492.3(NF1):c.373C>T (p.Arg125Cys)
|
rs876659418
|
|
NM_001042492.3(NF1):c.3741T>A (p.Phe1247Leu)
|
|
|
NM_001042492.3(NF1):c.3748C>A (p.Arg1250=)
|
|
|
NM_001042492.3(NF1):c.374G>T (p.Arg125Leu)
|
rs149003051
|
|
NM_001042492.3(NF1):c.3752A>G (p.His1251Arg)
|
rs1567852526
|
|
NM_001042492.3(NF1):c.3757C>T (p.Leu1253Phe)
|
rs2067186931
|
|
NM_001042492.3(NF1):c.3765_3766insATT (p.Gln1255_Leu1256insIle)
|
|
|
NM_001042492.3(NF1):c.3767T>A (p.Leu1256Gln)
|
|
|
NM_001042492.3(NF1):c.3774G>C (p.Trp1258Cys)
|
rs1597722516
|
|
NM_001042492.3(NF1):c.3779T>C (p.Met1260Thr)
|
rs1555615463
|
|
NM_001042492.3(NF1):c.3780G>T (p.Met1260Ile)
|
|
|
NM_001042492.3(NF1):c.378A>C (p.Glu126Asp)
|
rs786201914
|
|
NM_001042492.3(NF1):c.3790G>C (p.Glu1264Gln)
|
|
|
NM_001042492.3(NF1):c.3793G>T (p.Val1265Leu)
|
rs2151437905
|
|
NM_001042492.3(NF1):c.3794T>C (p.Val1265Ala)
|
|
|
NM_001042492.3(NF1):c.3797A>G (p.Glu1266Gly)
|
|
|
NM_001042492.3(NF1):c.3805G>A (p.Asp1269Asn)
|
|
|
NM_001042492.3(NF1):c.3808T>A (p.Ser1270Thr)
|
rs1597722567
|
|
NM_001042492.3(NF1):c.3809C>T (p.Ser1270Phe)
|
|
|
NM_001042492.3(NF1):c.3812T>C (p.Met1271Thr)
|
rs876659801
|
|
NM_001042492.3(NF1):c.3815A>T (p.Gln1272Leu)
|
rs1597722580
|
|
NM_001042492.3(NF1):c.3816G>C (p.Gln1272His)
|
|
|
NM_001042492.3(NF1):c.3817A>T (p.Thr1273Ser)
|
|
|
NM_001042492.3(NF1):c.3830G>C (p.Gly1277Ala)
|
|
|
NM_001042492.3(NF1):c.3832A>G (p.Asn1278Asp)
|
|
|
NM_001042492.3(NF1):c.3834C>A (p.Asn1278Lys)
|
|
|
NM_001042492.3(NF1):c.3838T>G (p.Leu1280Val)
|
|
|
NM_001042492.3(NF1):c.3840G>T (p.Leu1280Phe)
|
|
|
NM_001042492.3(NF1):c.3841G>A (p.Ala1281Thr)
|
rs2151438011
|
|
NM_001042492.3(NF1):c.3842C>G (p.Ala1281Gly)
|
rs1060500341
|
|
NM_001042492.3(NF1):c.3842C>T (p.Ala1281Val)
|
|
|
NM_001042492.3(NF1):c.3844A>G (p.Ser1282Gly)
|
|
|
NM_001042492.3(NF1):c.3849A>G (p.Lys1283=)
|
rs1597722644
|
|
NM_001042492.3(NF1):c.384C>A (p.Asn128Lys)
|
|
|
NM_001042492.3(NF1):c.3853A>C (p.Met1285Leu)
|
rs2151438030
|
|
NM_001042492.3(NF1):c.3855G>C (p.Met1285Ile)
|
rs2067189497
|
|
NM_001042492.3(NF1):c.3859T>C (p.Phe1287Leu)
|
rs1434858786
|
|
NM_001042492.3(NF1):c.386A>T (p.Gln129Leu)
|
rs1060500250
|
|
NM_001042492.3(NF1):c.3870+3T>A
|
|
|
NM_001042492.3(NF1):c.3870+5G>A
|
|
|
NM_001042492.3(NF1):c.3871-4G>A
|
rs558421445
|
|
NM_001042492.3(NF1):c.3871G>A (p.Val1291Ile)
|
|
|
NM_001042492.3(NF1):c.3872T>C (p.Val1291Ala)
|
|
|
NM_001042492.3(NF1):c.3875A>G (p.Tyr1292Cys)
|
rs1060500243
|
|
NM_001042492.3(NF1):c.3877G>A (p.Gly1293Ser)
|
|
|
NM_001042492.3(NF1):c.3877G>T (p.Gly1293Cys)
|
|
|
NM_001042492.3(NF1):c.3878G>A (p.Gly1293Asp)
|
rs2067193448
|
|
NM_001042492.3(NF1):c.387G>C (p.Gln129His)
|
rs1390215440
|
|
NM_001042492.3(NF1):c.3889C>A (p.Leu1297Ile)
|
|
|
NM_001042492.3(NF1):c.388C>T (p.His130Tyr)
|
|
|
NM_001042492.3(NF1):c.3890T>C (p.Leu1297Pro)
|
rs1597722927
|
|
NM_001042492.3(NF1):c.389A>C (p.His130Pro)
|
|
|
NM_001042492.3(NF1):c.389A>G (p.His130Arg)
|
rs876660277
|
|
NM_001042492.3(NF1):c.389A>T (p.His130Leu)
|
rs876660277
|
|
NM_001042492.3(NF1):c.3904G>A (p.Asp1302Asn)
|
rs1597722958
|
|
NM_001042492.3(NF1):c.3907C>T (p.Pro1303Ser)
|
|
|
NM_001042492.3(NF1):c.3908C>G (p.Pro1303Arg)
|
rs1597722962
|
|
NM_001042492.3(NF1):c.3908C>T (p.Pro1303Leu)
|
|
|
NM_001042492.3(NF1):c.3917G>A (p.Arg1306Gln)
|
rs1306237220
|
|
NM_001042492.3(NF1):c.3917G>C (p.Arg1306Pro)
|
|
|
NM_001042492.3(NF1):c.391G>A (p.Ala131Thr)
|
|
|
NM_001042492.3(NF1):c.3925A>G (p.Ile1309Val)
|
rs1350012235
|
|
NM_001042492.3(NF1):c.3926T>A (p.Ile1309Asn)
|
rs1567852796
|
|
NM_001042492.3(NF1):c.3929C>A (p.Thr1310Lys)
|
rs1555615554
|
|
NM_001042492.3(NF1):c.3929C>T (p.Thr1310Ile)
|
rs1555615554
|
|
NM_001042492.3(NF1):c.392C>T (p.Ala131Val)
|
rs1567817930
|
|
NM_001042492.3(NF1):c.3932C>A (p.Ser1311Tyr)
|
rs587782894
|
|
NM_001042492.3(NF1):c.3932C>T (p.Ser1311Phe)
|
rs587782894
|
|
NM_001042492.3(NF1):c.3943C>A (p.Gln1315Lys)
|
rs2067194846
|
|
NM_001042492.3(NF1):c.3944A>G (p.Gln1315Arg)
|
|
|
NM_001042492.3(NF1):c.3947A>C (p.His1316Pro)
|
rs751023085
|
|
NM_001042492.3(NF1):c.3949G>A (p.Val1317Ile)
|
rs1555615560
|
|
NM_001042492.3(NF1):c.394G>A (p.Ala132Thr)
|
|
|
NM_001042492.3(NF1):c.3953G>C (p.Ser1318Thr)
|
|
|
NM_001042492.3(NF1):c.3959A>C (p.Glu1320Ala)
|
rs1555615562
|
|
NM_001042492.3(NF1):c.3960A>C (p.Glu1320Asp)
|
rs1555615564
|
|
NM_001042492.3(NF1):c.3962T>G (p.Val1321Gly)
|
rs1060500337
|
|
NM_001042492.3(NF1):c.3964G>C (p.Asp1322His)
|
rs1597723042
|
|
NM_001042492.3(NF1):c.3966T>A (p.Asp1322Glu)
|
|
|
NM_001042492.3(NF1):c.3974+3T>G
|
rs1597723069
|
|
NM_001042492.3(NF1):c.3975-2694A>G
|
|
|
NM_001042492.3(NF1):c.3978A>T (p.Leu1326Phe)
|
rs876660506
|
|
NM_001042492.3(NF1):c.3980A>G (p.Glu1327Gly)
|
rs2067447715
|
|
NM_001042492.3(NF1):c.3982C>T (p.Pro1328Ser)
|
rs2151451297
|
|
NM_001042492.3(NF1):c.3986C>T (p.Ser1329Leu)
|
rs1060500319
|
|
NM_001042492.3(NF1):c.3988G>A (p.Glu1330Lys)
|
rs1483311407
|
|
NM_001042492.3(NF1):c.3991A>G (p.Ser1331Gly)
|
rs1411796317
|
|
NM_001042492.3(NF1):c.3992G>A (p.Ser1331Asn)
|
rs1567858266
|
|
NM_001042492.3(NF1):c.3995T>C (p.Leu1332Pro)
|
|
|
NM_001042492.3(NF1):c.3998A>G (p.Glu1333Gly)
|
rs200618072
|
|
NM_001042492.3(NF1):c.4000G>A (p.Glu1334Lys)
|
rs878853892
|
|
NM_001042492.3(NF1):c.4003A>T (p.Asn1335Tyr)
|
|
|
NM_001042492.3(NF1):c.4007A>C (p.Gln1336Pro)
|
rs1597735043
|
|
NM_001042492.3(NF1):c.4010G>A (p.Arg1337Gln)
|
rs1060500379
|
|
NM_001042492.3(NF1):c.4015C>T (p.Leu1339Phe)
|
rs876660466
|
|
NM_001042492.3(NF1):c.4022A>T (p.Gln1341Leu)
|
rs1555617325
|
|
NM_001042492.3(NF1):c.4023G>C (p.Gln1341His)
|
|
|
NM_001042492.3(NF1):c.4030G>A (p.Glu1344Lys)
|
|
|
NM_001042492.3(NF1):c.4034A>G (p.Lys1345Arg)
|
|
|
NM_001042492.3(NF1):c.4041C>A (p.Phe1347Leu)
|
|
|
NM_001042492.3(NF1):c.4043A>C (p.His1348Pro)
|
|
|
NM_001042492.3(NF1):c.4044T>A (p.His1348Gln)
|
rs1315375188
|
|
NM_001042492.3(NF1):c.4045G>A (p.Ala1349Thr)
|
rs1555617332
|
|
NM_001042492.3(NF1):c.4045G>T (p.Ala1349Ser)
|
rs1555617332
|
|
NM_001042492.3(NF1):c.4046C>T (p.Ala1349Val)
|
rs1229215269
|
|
NM_001042492.3(NF1):c.4049T>A (p.Ile1350Asn)
|
|
|
NM_001042492.3(NF1):c.4051A>T (p.Ile1351Phe)
|
|
|
NM_001042492.3(NF1):c.4054A>C (p.Ser1352Arg)
|
|
|
NM_001042492.3(NF1):c.4054A>T (p.Ser1352Cys)
|
rs1337343400
|
|
NM_001042492.3(NF1):c.4055G>T (p.Ser1352Ile)
|
rs876660908
|
|
NM_001042492.3(NF1):c.4058C>T (p.Ser1353Phe)
|
rs1555617346
|
|
NM_001042492.3(NF1):c.4063T>A (p.Ser1355Thr)
|
|
|
NM_001042492.3(NF1):c.4064C>T (p.Ser1355Leu)
|
rs1131691087
|
|
NM_001042492.3(NF1):c.4069T>A (p.Phe1357Ile)
|
rs1207255352
|
|
NM_001042492.3(NF1):c.4069T>C (p.Phe1357Leu)
|
rs1207255352
|
|
NM_001042492.3(NF1):c.4071C>A (p.Phe1357Leu)
|
|
|
NM_001042492.3(NF1):c.4071C>G (p.Phe1357Leu)
|
rs747272290
|
|
NM_001042492.3(NF1):c.4072C>A (p.Pro1358Thr)
|
|
|
NM_001042492.3(NF1):c.4072C>G (p.Pro1358Ala)
|
rs1555617359
|
|
NM_001042492.3(NF1):c.4072C>T (p.Pro1358Ser)
|
rs1555617359
|
|
NM_001042492.3(NF1):c.4074_4075delinsAA (p.Pro1359Thr)
|
rs1555617362
|
|
NM_001042492.3(NF1):c.4075C>A (p.Pro1359Thr)
|
rs745931495
|
|
NM_001042492.3(NF1):c.4075C>T (p.Pro1359Ser)
|
|
|
NM_001042492.3(NF1):c.4081C>A (p.Leu1361Ile)
|
|
|
NM_001042492.3(NF1):c.4085G>A (p.Arg1362Gln)
|
rs540108477
|
|
NM_001042492.3(NF1):c.4090G>T (p.Val1364Leu)
|
|
|
NM_001042492.3(NF1):c.4096C>T (p.His1366Tyr)
|
|
|
NM_001042492.3(NF1):c.4097A>G (p.His1366Arg)
|
rs769042915
|
|
NM_001042492.3(NF1):c.4103T>C (p.Leu1368Ser)
|
rs1597735265
|
|
NM_001042492.3(NF1):c.4109A>C (p.Gln1370Pro)
|
rs1135402853
|
|
NM_001042492.3(NF1):c.4110+3A>C
|
rs774669878
|
|
NM_001042492.3(NF1):c.4110+4T>A
|
rs587781700
|
|
NM_001042492.3(NF1):c.4110G>A (p.Gln1370=)
|
rs1135402854
|
|
NM_001042492.3(NF1):c.413C>T (p.Ala138Val)
|
rs1597635942
|
|
NM_001042492.3(NF1):c.415T>A (p.Ser139Thr)
|
rs1555606096
|
|
NM_001042492.3(NF1):c.415T>C (p.Ser139Pro)
|
rs1555606096
|
|
NM_001042492.3(NF1):c.4174G>A (p.Val1392Met)
|
rs1597744525
|
|
NM_001042492.3(NF1):c.4174G>T (p.Val1392Leu)
|
rs1597744525
|
|
NM_001042492.3(NF1):c.4184A>G (p.Gln1395Arg)
|
rs2151461782
|
|
NM_001042492.3(NF1):c.4186C>T (p.Arg1396Cys)
|
rs1555618495
|
|
NM_001042492.3(NF1):c.4191C>A (p.Phe1397Leu)
|
rs1555618498
|
|
NM_001042492.3(NF1):c.4193C>T (p.Pro1398Leu)
|
rs864622299
|
|
NM_001042492.3(NF1):c.4196A>G (p.Gln1399Arg)
|
|
|
NM_001042492.3(NF1):c.4197G>C (p.Gln1399His)
|
rs1355988609
|
|
NM_001042492.3(NF1):c.4197G>T (p.Gln1399His)
|
rs1355988609
|
|
NM_001042492.3(NF1):c.4198A>G (p.Asn1400Asp)
|
|
|
NM_001042492.3(NF1):c.4202G>C (p.Ser1401Thr)
|
rs1060500249
|
|
NM_001042492.3(NF1):c.4204A>T (p.Ile1402Phe)
|
|
|
NM_001042492.3(NF1):c.4206C>G (p.Ile1402Met)
|
rs864622406
|
|
NM_001042492.3(NF1):c.4207G>C (p.Gly1403Arg)
|
rs138227618
|
|
NM_001042492.3(NF1):c.4207G>T (p.Gly1403Cys)
|
|
|
NM_001042492.3(NF1):c.4208G>C (p.Gly1403Ala)
|
|
|
NM_001042492.3(NF1):c.4210G>T (p.Ala1404Ser)
|
|
|
NM_001042492.3(NF1):c.4213_4242dup (p.Ile1414_Asn1415insValGlySerAlaMetPheLeuArgPheIle)
|
|
|
NM_001042492.3(NF1):c.4214T>C (p.Val1405Ala)
|
rs1186560791
|
|
NM_001042492.3(NF1):c.4216G>A (p.Gly1406Arg)
|
|
|
NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly)
|
rs587781755
|
|
NM_001042492.3(NF1):c.4221T>A (p.Ser1407Arg)
|
|
|
NM_001042492.3(NF1):c.4222G>C (p.Ala1408Pro)
|
|
|
NM_001042492.3(NF1):c.4223C>A (p.Ala1408Asp)
|
rs2151461922
|
|
NM_001042492.3(NF1):c.4226T>C (p.Met1409Thr)
|
rs1555618508
|
|
NM_001042492.3(NF1):c.4227G>A (p.Met1409Ile)
|
rs786201895
|
|
NM_001042492.3(NF1):c.4227G>C (p.Met1409Ile)
|
rs786201895
|
|
NM_001042492.3(NF1):c.4228T>A (p.Phe1410Ile)
|
rs2151461937
|
|
NM_001042492.3(NF1):c.4237T>C (p.Phe1413Leu)
|
rs1190777334
|
|
NM_001042492.3(NF1):c.4239T>G (p.Phe1413Leu)
|
rs1597744644
|
|
NM_001042492.3(NF1):c.4241T>A (p.Ile1414Asn)
|
|
|
NM_001042492.3(NF1):c.4243A>G (p.Asn1415Asp)
|
rs1555618518
|
|
NM_001042492.3(NF1):c.4247C>T (p.Pro1416Leu)
|
rs1555618521
|
|
NM_001042492.3(NF1):c.4249G>T (p.Ala1417Ser)
|
rs587781941
|
|
NM_001042492.3(NF1):c.4250C>T (p.Ala1417Val)
|
|
|
NM_001042492.3(NF1):c.4252_4254del (p.Ile1418del)
|
rs1597744672
|
|
NM_001042492.3(NF1):c.4253T>C (p.Ile1418Thr)
|
|
|
NM_001042492.3(NF1):c.4255G>A (p.Val1419Ile)
|
rs2067622413
|
|
NM_001042492.3(NF1):c.4261C>T (p.Pro1421Ser)
|
rs1347152182
|
|
NM_001042492.3(NF1):c.4262C>G (p.Pro1421Arg)
|
rs753997885
|
|
NM_001042492.3(NF1):c.4265A>G (p.Tyr1422Cys)
|
rs1555618544
|
|
NM_001042492.3(NF1):c.426A>C (p.Leu142Phe)
|
|
|
NM_001042492.3(NF1):c.4275G>T (p.Gly1425=)
|
|
|
NM_001042492.3(NF1):c.4277T>C (p.Ile1426Thr)
|
rs1555618549
|
|
NM_001042492.3(NF1):c.4288A>G (p.Lys1430Glu)
|
|
|
NM_001042492.3(NF1):c.4292C>T (p.Pro1431Leu)
|
rs2067623603
|
|
NM_001042492.3(NF1):c.4294C>T (p.Pro1432Ser)
|
rs1597744750
|
|
NM_001042492.3(NF1):c.4295C>T (p.Pro1432Leu)
|
rs1597744755
|
|
NM_001042492.3(NF1):c.4298C>G (p.Pro1433Arg)
|
rs1310048288
|
|
NM_001042492.3(NF1):c.4301G>A (p.Arg1434Lys)
|
rs1597744780
|
|
NM_001042492.3(NF1):c.4305C>G (p.Ile1435Met)
|
|
|
NM_001042492.3(NF1):c.4306G>C (p.Glu1436Gln)
|
rs876660428
|
|
NM_001042492.3(NF1):c.4312G>A (p.Gly1438Ser)
|
rs1555618559
|
|
NM_001042492.3(NF1):c.4312G>C (p.Gly1438Arg)
|
|
|
NM_001042492.3(NF1):c.4313G>C (p.Gly1438Ala)
|
rs748901190
|
|
NM_001042492.3(NF1):c.4313G>T (p.Gly1438Val)
|
rs748901190
|
|
NM_001042492.3(NF1):c.4315T>A (p.Leu1439Met)
|
rs1555618562
|
|
NM_001042492.3(NF1):c.4316T>G (p.Leu1439Trp)
|
rs1567862071
|
|
NM_001042492.3(NF1):c.4324A>G (p.Met1442Val)
|
|
|
NM_001042492.3(NF1):c.4328C>T (p.Ser1443Leu)
|
rs1555618566
|
|
NM_001042492.3(NF1):c.4332+3G>A
|
|
|
NM_001042492.3(NF1):c.4332+5A>G
|
|
|
NM_001042492.3(NF1):c.4333-13_4333-4delinsAACAGGGTTATAAATA
|
|
|
NM_001042492.3(NF1):c.4333-3T>C
|
rs1597745535
|
|
NM_001042492.3(NF1):c.4333-5T>G
|
rs1455774859
|
|
NM_001042492.3(NF1):c.4333-7T>A
|
|
|
NM_001042492.3(NF1):c.4333A>C (p.Ile1445Leu)
|
rs1555618637
|
|
NM_001042492.3(NF1):c.4333A>G (p.Ile1445Val)
|
|
|
NM_001042492.3(NF1):c.4336C>T (p.Leu1446Phe)
|
rs1555618639
|
|
NM_001042492.3(NF1):c.433C>G (p.Leu145Val)
|
rs786203460
|
|
NM_001042492.3(NF1):c.433C>T (p.Leu145Phe)
|
rs786203460
|
|
NM_001042492.3(NF1):c.4346T>G (p.Ile1449Ser)
|
|
|
NM_001042492.3(NF1):c.434T>A (p.Leu145His)
|
rs199474734
|
|
NM_001042492.3(NF1):c.4351A>T (p.Asn1451Tyr)
|
|
|
NM_001042492.3(NF1):c.4352A>C (p.Asn1451Thr)
|
rs199474754
|
|
NM_001042492.3(NF1):c.4355A>C (p.His1452Pro)
|
|
|
NM_001042492.3(NF1):c.4355A>G (p.His1452Arg)
|
rs1567862291
|
|
NM_001042492.3(NF1):c.4357G>T (p.Val1453Phe)
|
rs199474755
|
|
NM_001042492.3(NF1):c.4358T>A (p.Val1453Asp)
|
|
|
NM_001042492.3(NF1):c.4360C>G (p.Leu1454Val)
|
rs1408832954
|
|
NM_001042492.3(NF1):c.4367C>T (p.Thr1456Ile)
|
|
|
NM_001042492.3(NF1):c.4379A>G (p.His1460Arg)
|
rs748990989
|
|
NM_001042492.3(NF1):c.4381A>C (p.Met1461Leu)
|
|
|
NM_001042492.3(NF1):c.4381A>G (p.Met1461Val)
|
rs1555618675
|
|
NM_001042492.3(NF1):c.4381A>T (p.Met1461Leu)
|
rs1555618675
|
|
NM_001042492.3(NF1):c.4382T>G (p.Met1461Arg)
|
rs754639587
|
|
NM_001042492.3(NF1):c.4394A>G (p.Asn1465Ser)
|
rs786202492
|
|
NM_001042492.3(NF1):c.4395T>G (p.Asn1465Lys)
|
|
|
NM_001042492.3(NF1):c.4396G>T (p.Asp1466Tyr)
|
rs878853895
|
|
NM_001042492.3(NF1):c.439T>C (p.Cys147Arg)
|
rs1555606104
|
|
NM_001042492.3(NF1):c.4400T>G (p.Phe1467Cys)
|
rs1555618685
|
|
NM_001042492.3(NF1):c.4402G>A (p.Val1468Met)
|
rs876660320
|
|
NM_001042492.3(NF1):c.4415T>C (p.Phe1472Ser)
|
|
|
NM_001042492.3(NF1):c.4415T>G (p.Phe1472Cys)
|
rs1597745737
|
|
NM_001042492.3(NF1):c.4424C>G (p.Ala1475Gly)
|
|
|
NM_001042492.3(NF1):c.4427G>A (p.Arg1476His)
|
rs1555618691
|
|
NM_001042492.3(NF1):c.4430+2dup
|
|
|
NM_001042492.3(NF1):c.4430G>A (p.Arg1477Lys)
|
rs1060500293
|
|
NM_001042492.3(NF1):c.4431G>A (p.Arg1477=)
|
rs181462219
|
|
NM_001042492.3(NF1):c.4432T>G (p.Phe1478Val)
|
rs1555618802
|
|
NM_001042492.3(NF1):c.4433T>C (p.Phe1478Ser)
|
|
|
NM_001042492.3(NF1):c.4435T>C (p.Phe1479Leu)
|
|
|
NM_001042492.3(NF1):c.4436T>C (p.Phe1479Ser)
|
rs2067662458
|
|
NM_001042492.3(NF1):c.4437C>G (p.Phe1479Leu)
|
rs757953485
|
|
NM_001042492.3(NF1):c.4444A>G (p.Ile1482Val)
|
rs1060500362
|
|
NM_001042492.3(NF1):c.4447G>A (p.Ala1483Thr)
|
rs1555618808
|
|
NM_001042492.3(NF1):c.4450T>C (p.Ser1484Pro)
|
rs2067662922
|
|
NM_001042492.3(NF1):c.4454A>G (p.Asp1485Gly)
|
rs1279391103
|
|
NM_001042492.3(NF1):c.4456T>A (p.Cys1486Ser)
|
|
|
NM_001042492.3(NF1):c.4457G>A (p.Cys1486Tyr)
|
|
|
NM_001042492.3(NF1):c.4459C>T (p.Pro1487Ser)
|
rs1265291141
|
|
NM_001042492.3(NF1):c.445A>G (p.Asn149Asp)
|
rs750974024
|
|
NM_001042492.3(NF1):c.4463C>T (p.Thr1488Ile)
|
rs1597746958
|
|
NM_001042492.3(NF1):c.446A>C (p.Asn149Thr)
|
rs2143673370
|
|
NM_001042492.3(NF1):c.4472C>T (p.Ala1491Val)
|
rs876658334
|
|
NM_001042492.3(NF1):c.4481A>G (p.His1494Arg)
|
rs769417700
|
|
NM_001042492.3(NF1):c.4486C>A (p.Leu1496Ile)
|
|
|
NM_001042492.3(NF1):c.4486C>G (p.Leu1496Val)
|
|
|
NM_001042492.3(NF1):c.4486C>T (p.Leu1496Phe)
|
rs1555618823
|
|
NM_001042492.3(NF1):c.4495A>C (p.Ile1499Leu)
|
rs764654925
|
|
NM_001042492.3(NF1):c.4495A>T (p.Ile1499Leu)
|
rs764654925
|
|
NM_001042492.3(NF1):c.4499G>C (p.Ser1500Thr)
|
rs1555618829
|
|
NM_001042492.3(NF1):c.4502A>G (p.Asp1501Gly)
|
rs1555618835
|
|
NM_001042492.3(NF1):c.4505G>A (p.Gly1502Asp)
|
|
|
NM_001042492.3(NF1):c.4507A>C (p.Asn1503His)
|
rs1555618837
|
|
NM_001042492.3(NF1):c.4507A>G (p.Asn1503Asp)
|
|
|
NM_001042492.3(NF1):c.4510G>A (p.Val1504Met)
|
rs1555618839
|
|
NM_001042492.3(NF1):c.4517C>T (p.Ala1506Val)
|
|
|
NM_001042492.3(NF1):c.4520T>C (p.Leu1507Ser)
|
rs1135402863
|
|
NM_001042492.3(NF1):c.4525C>T (p.Arg1509Cys)
|
rs864622348
|
|
NM_001042492.3(NF1):c.4528C>G (p.Leu1510Val)
|
rs1597747076
|
|
NM_001042492.3(NF1):c.4536G>C (p.Trp1512Cys)
|
rs878853897
|
|
NM_001042492.3(NF1):c.4540A>T (p.Asn1514Tyr)
|
|
|
NM_001042492.3(NF1):c.4546G>A (p.Glu1516Lys)
|
|
|
NM_001042492.3(NF1):c.4548G>C (p.Glu1516Asp)
|
rs1567863000
|
|
NM_001042492.3(NF1):c.4555G>A (p.Gly1519Arg)
|
rs1060500380
|
|
NM_001042492.3(NF1):c.455C>T (p.Ala152Val)
|
|
|
NM_001042492.3(NF1):c.4562A>G (p.Tyr1521Cys)
|
rs2067665932
|
|
NM_001042492.3(NF1):c.4565T>C (p.Leu1522Pro)
|
|
|
NM_001042492.3(NF1):c.4568C>G (p.Ser1523Cys)
|
|
|
NM_001042492.3(NF1):c.4571G>A (p.Ser1524Asn)
|
|
|
NM_001042492.3(NF1):c.4571_4572delinsAA (p.Ser1524Lys)
|
rs1555618860
|
|
NM_001042492.3(NF1):c.4572C>A (p.Ser1524Arg)
|
rs1597747170
|
|
NM_001042492.3(NF1):c.4573A>G (p.Asn1525Asp)
|
rs1555618861
|
|
NM_001042492.3(NF1):c.4574A>G (p.Asn1525Ser)
|
|
|
NM_001042492.3(NF1):c.4575C>A (p.Asn1525Lys)
|
|
|
NM_001042492.3(NF1):c.4576A>G (p.Arg1526Gly)
|
|
|
NM_001042492.3(NF1):c.4577+4A>G
|
rs1555618863
|
|
NM_001042492.3(NF1):c.4580A>T (p.Asp1527Val)
|
|
|
NM_001042492.3(NF1):c.4582C>T (p.His1528Tyr)
|
|
|
NM_001042492.3(NF1):c.4588G>A (p.Ala1530Thr)
|
rs2151466206
|
|
NM_001042492.3(NF1):c.4591G>T (p.Val1531Phe)
|
|
|
NM_001042492.3(NF1):c.4607T>C (p.Phe1536Ser)
|
|
|
NM_001042492.3(NF1):c.4615A>G (p.Met1539Val)
|
|
|
NM_001042492.3(NF1):c.4616T>A (p.Met1539Lys)
|
rs1567863578
|
|
NM_001042492.3(NF1):c.4624CTT[1] (p.Leu1543del)
|
|
|
NM_001042492.3(NF1):c.4628T>C (p.Leu1543Pro)
|
|
|
NM_001042492.3(NF1):c.4633T>C (p.Tyr1545His)
|
rs1555619019
|
|
NM_001042492.3(NF1):c.4634A>G (p.Tyr1545Cys)
|
rs1597748795
|
|
NM_001042492.3(NF1):c.464G>A (p.Ser155Asn)
|
rs1555606113
|
|
NM_001042492.3(NF1):c.4657C>T (p.Pro1553Ser)
|
rs1033427343
|
|
NM_001042492.3(NF1):c.4658C>G (p.Pro1553Arg)
|
rs1597748857
|
|
NM_001042492.3(NF1):c.4660G>A (p.Val1554Met)
|
rs1319687326
|
|
NM_001042492.3(NF1):c.4663G>A (p.Ala1555Thr)
|
rs1597748868
|
|
NM_001042492.3(NF1):c.466C>T (p.Arg156Cys)
|
rs755890242
|
|
NM_001042492.3(NF1):c.4670C>T (p.Thr1557Ile)
|
rs876660065
|
|
NM_001042492.3(NF1):c.4673A>G (p.His1558Arg)
|
rs1597748910
|
|
NM_001042492.3(NF1):c.4678T>C (p.Ser1560Pro)
|
|
|
NM_001042492.3(NF1):c.467G>T (p.Arg156Leu)
|
rs754096545
|
|
NM_001042492.3(NF1):c.4681A>G (p.Ser1561Gly)
|
|
|
NM_001042492.3(NF1):c.4694C>G (p.Thr1565Ser)
|
rs2067691859
|
|
NM_001042492.3(NF1):c.4699T>G (p.Ser1567Ala)
|
|
|
NM_001042492.3(NF1):c.469A>G (p.Ile157Val)
|
rs1555606118
|
|
NM_001042492.3(NF1):c.4700C>T (p.Ser1567Leu)
|
rs1555619051
|
|
NM_001042492.3(NF1):c.4706T>C (p.Phe1569Ser)
|
|
|
NM_001042492.3(NF1):c.4713A>T (p.Glu1571Asp)
|
|
|
NM_001042492.3(NF1):c.4721C>T (p.Thr1574Ile)
|
rs1567863650
|
|
NM_001042492.3(NF1):c.4724+5A>G
|
rs2151466564
|
|
NM_001042492.3(NF1):c.4725-3T>C
|
rs892441625
|
|
NM_001042492.3(NF1):c.4729C>G (p.Gln1577Glu)
|
|
|
NM_001042492.3(NF1):c.4732G>A (p.Val1578Ile)
|
rs1597753156
|
|
NM_001042492.3(NF1):c.4735C>G (p.His1579Asp)
|
|
|
NM_001042492.3(NF1):c.4736A>C (p.His1579Pro)
|
rs1275751975
|
|
NM_001042492.3(NF1):c.4756G>A (p.Ala1586Thr)
|
rs767438491
|
|
NM_001042492.3(NF1):c.4756G>T (p.Ala1586Ser)
|
rs767438491
|
|
NM_001042492.3(NF1):c.4769T>C (p.Leu1590Ser)
|
|
|
NM_001042492.3(NF1):c.4780T>C (p.Tyr1594His)
|
|
|
NM_001042492.3(NF1):c.4781A>G (p.Tyr1594Cys)
|
rs1060500303
|
|
NM_001042492.3(NF1):c.4787C>G (p.Ala1596Gly)
|
rs1567865042
|
|
NM_001042492.3(NF1):c.4789G>A (p.Gly1597Arg)
|
|
|
NM_001042492.3(NF1):c.479+3T>G
|
rs876658752
|
|
NM_001042492.3(NF1):c.4790G>A (p.Gly1597Glu)
|
|
|
NM_001042492.3(NF1):c.4792A>G (p.Thr1598Ala)
|
|
|
NM_001042492.3(NF1):c.4795T>C (p.Ser1599Pro)
|
|
|
NM_001042492.3(NF1):c.4796C>G (p.Ser1599Cys)
|
rs1555619407
|
|
NM_001042492.3(NF1):c.4798A>G (p.Lys1600Glu)
|
|
|
NM_001042492.3(NF1):c.480-5T>C
|
rs1555607069
|
|
NM_001042492.3(NF1):c.480-65G>A
|
|
|
NM_001042492.3(NF1):c.4804G>A (p.Gly1602Arg)
|
rs878853898
|
|
NM_001042492.3(NF1):c.4805G>A (p.Gly1602Glu)
|
|
|
NM_001042492.3(NF1):c.480G>T (p.Arg160Ser)
|
rs1555607071
|
|
NM_001042492.3(NF1):c.4810C>G (p.Pro1604Ala)
|
|
|
NM_001042492.3(NF1):c.4811C>G (p.Pro1604Arg)
|
rs2067766742
|
|
NM_001042492.3(NF1):c.4813A>T (p.Ile1605Phe)
|
rs199474766
|
|
NM_001042492.3(NF1):c.4822T>G (p.Tyr1608Asp)
|
rs2067766985
|
|
NM_001042492.3(NF1):c.4823A>C (p.Tyr1608Ser)
|
rs1555619417
|
|
NM_001042492.3(NF1):c.4823A>G (p.Tyr1608Cys)
|
rs1555619417
|
|
NM_001042492.3(NF1):c.4825G>A (p.Val1609Ile)
|
rs876658973
|
|
NM_001042492.3(NF1):c.4828G>A (p.Ala1610Thr)
|
rs2067767184
|
|
NM_001042492.3(NF1):c.4829C>T (p.Ala1610Val)
|
|
|
NM_001042492.3(NF1):c.4832G>A (p.Arg1611Gln)
|
rs876659197
|
|
NM_001042492.3(NF1):c.4834A>T (p.Arg1612Trp)
|
|
|
NM_001042492.3(NF1):c.4835G>A (p.Arg1612Lys)
|
rs1555619423
|
|
NM_001042492.3(NF1):c.4836G>T (p.Arg1612Ser)
|
rs1555533268
|
|
NM_001042492.3(NF1):c.4838T>G (p.Phe1613Cys)
|
rs2151537477
|
|
NM_001042492.3(NF1):c.4841A>G (p.Lys1614Arg)
|
|
|
NM_001042492.3(NF1):c.4846G>A (p.Gly1616Ser)
|
rs1555533271
|
|
NM_001042492.3(NF1):c.4847G>T (p.Gly1616Val)
|
|
|
NM_001042492.3(NF1):c.484C>G (p.Gln162Glu)
|
rs1555607073
|
|
NM_001042492.3(NF1):c.4852A>G (p.Ile1618Val)
|
|
|
NM_001042492.3(NF1):c.4856A>G (p.Asn1619Ser)
|
rs1466167635
|
|
NM_001042492.3(NF1):c.4872A>G (p.Ile1624Met)
|
|
|
NM_001042492.3(NF1):c.4874A>G (p.Tyr1625Cys)
|
|
|
NM_001042492.3(NF1):c.487G>A (p.Glu163Lys)
|
|
|
NM_001042492.3(NF1):c.4885C>G (p.Leu1629Val)
|
|
|
NM_001042492.3(NF1):c.4888A>T (p.Thr1630Ser)
|
|
|
NM_001042492.3(NF1):c.4889C>T (p.Thr1630Ile)
|
|
|
NM_001042492.3(NF1):c.4892T>C (p.Leu1631Ser)
|
rs1555533292
|
|
NM_001042492.3(NF1):c.4894A>C (p.Lys1632Gln)
|
rs1597829604
|
|
NM_001042492.3(NF1):c.4897C>G (p.Pro1633Ala)
|
|
|
NM_001042492.3(NF1):c.4904A>T (p.Tyr1635Phe)
|
rs786202866
|
|
NM_001042492.3(NF1):c.4921A>G (p.Ile1641Val)
|
rs2151537768
|
|
NM_001042492.3(NF1):c.4922T>C (p.Ile1641Thr)
|
rs1567611281
|
|
NM_001042492.3(NF1):c.4924G>A (p.Val1642Ile)
|
rs2151537778
|
|
NM_001042492.3(NF1):c.4925T>A (p.Val1642Glu)
|
rs1555533301
|
|
NM_001042492.3(NF1):c.4927G>A (p.Val1643Met)
|
rs1060500381
|
|
NM_001042492.3(NF1):c.4927_4929delinsATA (p.Val1643Ile)
|
rs1597829655
|
|
NM_001042492.3(NF1):c.4928T>C (p.Val1643Ala)
|
|
|
NM_001042492.3(NF1):c.4933C>G (p.Leu1645Val)
|
rs2069328058
|
|
NM_001042492.3(NF1):c.4934T>C (p.Leu1645Pro)
|
rs1555533305
|
|
NM_001042492.3(NF1):c.4934T>G (p.Leu1645Arg)
|
rs1555533305
|
|
NM_001042492.3(NF1):c.4936A>G (p.Thr1646Ala)
|
|
|
NM_001042492.3(NF1):c.4936A>T (p.Thr1646Ser)
|
|
|
NM_001042492.3(NF1):c.4937C>A (p.Thr1646Asn)
|
|
|
NM_001042492.3(NF1):c.4937C>T (p.Thr1646Ile)
|
rs1597829686
|
|
NM_001042492.3(NF1):c.493A>G (p.Thr165Ala)
|
rs786203186
|
|
NM_001042492.3(NF1):c.4945G>C (p.Gly1649Arg)
|
|
|
NM_001042492.3(NF1):c.4946G>A (p.Gly1649Glu)
|
rs1597829715
|
|
NM_001042492.3(NF1):c.4949C>T (p.Pro1650Leu)
|
rs1597829723
|
|
NM_001042492.3(NF1):c.494C>G (p.Thr165Ser)
|
rs876660009
|
|
NM_001042492.3(NF1):c.4955A>G (p.Asn1652Ser)
|
rs775874538
|
|
NM_001042492.3(NF1):c.4956T>A (p.Asn1652Lys)
|
rs1597829740
|
|
NM_001042492.3(NF1):c.4961T>C (p.Phe1654Ser)
|
rs1597829760
|
|
NM_001042492.3(NF1):c.4966A>G (p.Thr1656Ala)
|
|
|
NM_001042492.3(NF1):c.4967C>T (p.Thr1656Ile)
|
|
|
NM_001042492.3(NF1):c.4969_4970delinsTT (p.Asp1657Phe)
|
rs1597829765
|
|
NM_001042492.3(NF1):c.496G>A (p.Val166Ile)
|
|
|
NM_001042492.3(NF1):c.4972T>A (p.Phe1658Ile)
|
|
|
NM_001042492.3(NF1):c.4976T>G (p.Leu1659Arg)
|
|
|
NM_001042492.3(NF1):c.4979C>G (p.Ser1660Cys)
|
rs2069329686
|
|
NM_001042492.3(NF1):c.5000C>T (p.Pro1667Leu)
|
|
|
NM_001042492.3(NF1):c.5002G>C (p.Gly1668Arg)
|
|
|
NM_001042492.3(NF1):c.5003G>T (p.Gly1668Val)
|
rs1555533332
|
|
NM_001042492.3(NF1):c.5007T>G (p.Phe1669Leu)
|
rs761807609
|
|
NM_001042492.3(NF1):c.5014G>A (p.Asp1672Asn)
|
rs1483541195
|
|
NM_001042492.3(NF1):c.5015A>T (p.Asp1672Val)
|
rs1555533338
|
|
NM_001042492.3(NF1):c.5018A>G (p.Asn1673Ser)
|
rs1201910133
|
|
NM_001042492.3(NF1):c.5020G>A (p.Val1674Ile)
|
rs1555533342
|
|
NM_001042492.3(NF1):c.5026G>T (p.Ala1676Ser)
|
rs756450772
|
|
NM_001042492.3(NF1):c.5032T>C (p.Tyr1678His)
|
rs786203241
|
|
NM_001042492.3(NF1):c.5033A>C (p.Tyr1678Ser)
|
rs1555533347
|
|
NM_001042492.3(NF1):c.5033A>G (p.Tyr1678Cys)
|
rs1555533347
|
|
NM_001042492.3(NF1):c.5039A>G (p.Tyr1680Cys)
|
rs758361270
|
|
NM_001042492.3(NF1):c.5057T>A (p.Val1686Asp)
|
|
|
NM_001042492.3(NF1):c.5059A>G (p.Arg1687Gly)
|
rs746461616
|
|
NM_001042492.3(NF1):c.5060_5069delinsTGTA (p.Arg1687_Thr1690delinsMetTyr)
|
|
|
NM_001042492.3(NF1):c.5072A>C (p.Lys1691Thr)
|
rs863224661
|
|
NM_001042492.3(NF1):c.5073G>C (p.Lys1691Asn)
|
rs1597829953
|
|
NM_001042492.3(NF1):c.5073G>T (p.Lys1691Asn)
|
|
|
NM_001042492.3(NF1):c.5074T>A (p.Tyr1692Asn)
|
rs1597829956
|
|
NM_001042492.3(NF1):c.5075A>G (p.Tyr1692Cys)
|
|
|
NM_001042492.3(NF1):c.5083C>T (p.Arg1695Trp)
|
rs1567611500
|
|
NM_001042492.3(NF1):c.5084G>A (p.Arg1695Gln)
|
rs1555533367
|
|
NM_001042492.3(NF1):c.5092A>T (p.Thr1698Ser)
|
rs876659017
|
|
NM_001042492.3(NF1):c.5093C>G (p.Thr1698Ser)
|
rs769469854
|
|
NM_001042492.3(NF1):c.5095G>A (p.Gly1699Ser)
|
rs1597830004
|
|
NM_001042492.3(NF1):c.5096G>A (p.Gly1699Asp)
|
rs2069333669
|
|
NM_001042492.3(NF1):c.5101A>G (p.Lys1701Glu)
|
|
|
NM_001042492.3(NF1):c.5107A>G (p.Ser1703Gly)
|
rs1555533374
|
|
NM_001042492.3(NF1):c.510C>A (p.Asp170Glu)
|
rs1597643788
|
|
NM_001042492.3(NF1):c.5110A>G (p.Lys1704Glu)
|
|
|
NM_001042492.3(NF1):c.5111A>C (p.Lys1704Thr)
|
|
|
NM_001042492.3(NF1):c.5111A>G (p.Lys1704Arg)
|
|
|
NM_001042492.3(NF1):c.5113A>C (p.Arg1705=)
|
|
|
NM_001042492.3(NF1):c.5114G>A (p.Arg1705Lys)
|
rs876660487
|
|
NM_001042492.3(NF1):c.5128G>A (p.Asp1710Asn)
|
rs1428709938
|
|
NM_001042492.3(NF1):c.512A>T (p.Asn171Ile)
|
|
|
NM_001042492.3(NF1):c.5134C>A (p.Pro1712Thr)
|
rs1567611556
|
|
NM_001042492.3(NF1):c.5134C>T (p.Pro1712Ser)
|
rs1567611556
|
|
NM_001042492.3(NF1):c.5135C>T (p.Pro1712Leu)
|
|
|
NM_001042492.3(NF1):c.5141A>C (p.Lys1714Thr)
|
rs2069334864
|
|
NM_001042492.3(NF1):c.5143C>G (p.Leu1715Val)
|
|
|
NM_001042492.3(NF1):c.5144T>C (p.Leu1715Pro)
|
rs2151538677
|
|
NM_001042492.3(NF1):c.5146G>A (p.Ala1716Thr)
|
rs767469374
|
|
NM_001042492.3(NF1):c.514G>A (p.Val172Ile)
|
rs1555607083
|
|
NM_001042492.3(NF1):c.5152C>T (p.His1718Tyr)
|
rs1555533381
|
|
NM_001042492.3(NF1):c.5155A>G (p.Ile1719Val)
|
rs1434439252
|
|
NM_001042492.3(NF1):c.5156T>C (p.Ile1719Thr)
|
rs1597830137
|
|
NM_001042492.3(NF1):c.5162A>C (p.His1721Pro)
|
|
|
NM_001042492.3(NF1):c.5162A>G (p.His1721Arg)
|
rs1597830164
|
|
NM_001042492.3(NF1):c.5162A>T (p.His1721Leu)
|
|
|
NM_001042492.3(NF1):c.5166A>T (p.Glu1722Asp)
|
rs1597830174
|
|
NM_001042492.3(NF1):c.5168A>G (p.Gln1723Arg)
|
|
|
NM_001042492.3(NF1):c.5169A>T (p.Gln1723His)
|
rs864622372
|
|
NM_001042492.3(NF1):c.5175A>T (p.Lys1725Asn)
|
|
|
NM_001042492.3(NF1):c.5179C>T (p.Pro1727Ser)
|
|
|
NM_001042492.3(NF1):c.5180C>T (p.Pro1727Leu)
|
|
|
NM_001042492.3(NF1):c.5182G>A (p.Ala1728Thr)
|
|
|
NM_001042492.3(NF1):c.5186C>T (p.Ala1729Val)
|
|
|
NM_001042492.3(NF1):c.5188A>G (p.Thr1730Ala)
|
|
|
NM_001042492.3(NF1):c.5189C>G (p.Thr1730Ser)
|
rs772831692
|
|
NM_001042492.3(NF1):c.5191T>G (p.Leu1731Val)
|
rs876658602
|
|
NM_001042492.3(NF1):c.5195C>G (p.Ala1732Gly)
|
rs202037436
|
|
NM_001042492.3(NF1):c.5206G>A (p.Asp1736Asn)
|
|
|
NM_001042492.3(NF1):c.520G>A (p.Val174Ile)
|
rs1555607084
|
|
NM_001042492.3(NF1):c.520G>T (p.Val174Phe)
|
rs1555607084
|
|
NM_001042492.3(NF1):c.5210T>C (p.Leu1737Pro)
|
|
|
NM_001042492.3(NF1):c.5215G>A (p.Val1739Ile)
|
|
|
NM_001042492.3(NF1):c.5215G>C (p.Val1739Leu)
|
rs876659956
|
|
NM_001042492.3(NF1):c.5221C>A (p.His1741Asn)
|
rs780529277
|
|
NM_001042492.3(NF1):c.5222A>T (p.His1741Leu)
|
rs1555533402
|
|
NM_001042492.3(NF1):c.5223C>G (p.His1741Gln)
|
|
|
NM_001042492.3(NF1):c.5227G>C (p.Ala1743Pro)
|
rs878853900
|
|
NM_001042492.3(NF1):c.5228C>G (p.Ala1743Gly)
|
|
|
NM_001042492.3(NF1):c.5240C>G (p.Ala1747Gly)
|
|
|
NM_001042492.3(NF1):c.5240C>T (p.Ala1747Val)
|
|
|
NM_001042492.3(NF1):c.5244C>G (p.His1748Gln)
|
|
|
NM_001042492.3(NF1):c.5245A>G (p.Lys1749Glu)
|
rs2069338050
|
|
NM_001042492.3(NF1):c.5246A>G (p.Lys1749Arg)
|
|
|
NM_001042492.3(NF1):c.5250C>G (p.Asp1750Glu)
|
|
|
NM_001042492.3(NF1):c.5252C>T (p.Thr1751Ile)
|
|
|
NM_001042492.3(NF1):c.5260T>C (p.Ser1754Pro)
|
|
|
NM_001042492.3(NF1):c.5260T>G (p.Ser1754Ala)
|
|
|
NM_001042492.3(NF1):c.5261C>A (p.Ser1754Tyr)
|
|
|
NM_001042492.3(NF1):c.5261C>G (p.Ser1754Cys)
|
|
|
NM_001042492.3(NF1):c.5268+2T>A
|
|
|
NM_001042492.3(NF1):c.5268+2dup
|
|
|
NM_001042492.3(NF1):c.5268+3A>T
|
|
|
NM_001042492.3(NF1):c.5269G>A (p.Val1757Ile)
|
|
|
NM_001042492.3(NF1):c.5269G>T (p.Val1757Phe)
|
|
|
NM_001042492.3(NF1):c.526G>T (p.Asp176Tyr)
|
|
|
NM_001042492.3(NF1):c.5275T>C (p.Ser1759Pro)
|
rs2069375050
|
|
NM_001042492.3(NF1):c.5276C>A (p.Ser1759Tyr)
|
|
|
NM_001042492.3(NF1):c.5276C>G (p.Ser1759Cys)
|
|
|
NM_001042492.3(NF1):c.5281G>A (p.Ala1761Thr)
|
rs2069375243
|
|
NM_001042492.3(NF1):c.5281G>C (p.Ala1761Pro)
|
rs2069375243
|
|
NM_001042492.3(NF1):c.5282C>T (p.Ala1761Val)
|
|
|
NM_001042492.3(NF1):c.5290G>T (p.Val1764Leu)
|
rs778427434
|
|
NM_001042492.3(NF1):c.5299G>A (p.Ala1767Thr)
|
rs529905904
|
|
NM_001042492.3(NF1):c.529A>C (p.Ile177Leu)
|
|
|
NM_001042492.3(NF1):c.5306G>A (p.Arg1769Gln)
|
rs1555533559
|
|
NM_001042492.3(NF1):c.5309C>T (p.Thr1770Ile)
|
|
|
NM_001042492.3(NF1):c.5315T>A (p.Val1772Asp)
|
rs1209831572
|
|
NM_001042492.3(NF1):c.5317C>G (p.Leu1773Val)
|
|
|
NM_001042492.3(NF1):c.5318T>C (p.Leu1773Pro)
|
rs1597831917
|
|
NM_001042492.3(NF1):c.531A>G (p.Ile177Met)
|
|
|
NM_001042492.3(NF1):c.5321G>A (p.Gly1774Glu)
|
|
|
NM_001042492.3(NF1):c.5324A>T (p.Gln1775Leu)
|
|
|
NM_001042492.3(NF1):c.5332T>C (p.Phe1778Leu)
|
|
|
NM_001042492.3(NF1):c.533A>T (p.Glu178Val)
|
|
|
NM_001042492.3(NF1):c.5344A>C (p.Ile1782Leu)
|
rs1160436761
|
|
NM_001042492.3(NF1):c.5348A>G (p.Tyr1783Cys)
|
rs1597831963
|
|
NM_001042492.3(NF1):c.5351A>G (p.Tyr1784Cys)
|
rs1060500280
|
|
NM_001042492.3(NF1):c.5353G>A (p.Ala1785Thr)
|
|
|
NM_001042492.3(NF1):c.5362A>G (p.Ile1788Val)
|
rs2069378035
|
|
NM_001042492.3(NF1):c.5365G>A (p.Glu1789Lys)
|
|
|
NM_001042492.3(NF1):c.5365G>C (p.Glu1789Gln)
|
rs1555533571
|
|
NM_001042492.3(NF1):c.5366A>G (p.Glu1789Gly)
|
rs1555533573
|
|
NM_001042492.3(NF1):c.5371A>G (p.Ile1791Val)
|
|
|
NM_001042492.3(NF1):c.5377C>A (p.Leu1793Ile)
|
rs761676110
|
|
NM_001042492.3(NF1):c.537G>T (p.Leu179Phe)
|
|
|
NM_001042492.3(NF1):c.5380G>A (p.Val1794Ile)
|
rs1555533574
|
|
NM_001042492.3(NF1):c.5385T>G (p.Asp1795Glu)
|
rs1135402870
|
|
NM_001042492.3(NF1):c.5390A>G (p.Asn1797Ser)
|
|
|
NM_001042492.3(NF1):c.5391_5393dup (p.Asn1797_Gln1798insHis)
|
|
|
NM_001042492.3(NF1):c.5395T>G (p.Phe1799Val)
|
|
|
NM_001042492.3(NF1):c.5407A>T (p.Ile1803Phe)
|
|
|
NM_001042492.3(NF1):c.5409T>G (p.Ile1803Met)
|
rs2069379800
|
|
NM_001042492.3(NF1):c.540A>C (p.Leu180Phe)
|
rs1597643865
|
|
NM_001042492.3(NF1):c.5413A>G (p.Asn1805Asp)
|
rs1287561681
|
|
NM_001042492.3(NF1):c.5420G>A (p.Gly1807Asp)
|
|
|
NM_001042492.3(NF1):c.5423C>A (p.Thr1808Lys)
|
rs760649828
|
|
NM_001042492.3(NF1):c.5428C>T (p.Leu1810Phe)
|
|
|
NM_001042492.3(NF1):c.5429T>C (p.Leu1810Pro)
|
|
|
NM_001042492.3(NF1):c.542A>G (p.Gln181Arg)
|
rs2065904138
|
|
NM_001042492.3(NF1):c.5431A>G (p.Thr1811Ala)
|
|
|
NM_001042492.3(NF1):c.5434T>C (p.Phe1812Leu)
|
rs2069380487
|
|
NM_001042492.3(NF1):c.5438T>C (p.Met1813Thr)
|
|
|
NM_001042492.3(NF1):c.5439G>C (p.Met1813Ile)
|
|
|
NM_001042492.3(NF1):c.5440C>T (p.His1814Tyr)
|
rs1036523228
|
|
NM_001042492.3(NF1):c.5442C>G (p.His1814Gln)
|
rs991848606
|
|
NM_001042492.3(NF1):c.5443C>G (p.Gln1815Glu)
|
rs1555533587
|
|
NM_001042492.3(NF1):c.544T>G (p.Tyr182Asp)
|
rs1597643876
|
|
NM_001042492.3(NF1):c.5450G>A (p.Cys1817Tyr)
|
rs1555533589
|
|
NM_001042492.3(NF1):c.5450G>T (p.Cys1817Phe)
|
rs1555533589
|
|
NM_001042492.3(NF1):c.5456C>T (p.Ala1819Val)
|
rs1555533590
|
|
NM_001042492.3(NF1):c.5458A>G (p.Ile1820Val)
|
rs786202459
|
|
NM_001042492.3(NF1):c.5459T>C (p.Ile1820Thr)
|
rs1597832129
|
|
NM_001042492.3(NF1):c.545A>G (p.Tyr182Cys)
|
rs2143707725
|
|
NM_001042492.3(NF1):c.5461G>A (p.Val1821Ile)
|
|
|
NM_001042492.3(NF1):c.5461G>C (p.Val1821Leu)
|
rs1597832135
|
|
NM_001042492.3(NF1):c.5462T>C (p.Val1821Ala)
|
rs2151541436
|
|
NM_001042492.3(NF1):c.5465A>C (p.Gln1822Pro)
|
rs1060500328
|
|
NM_001042492.3(NF1):c.5467T>A (p.Ser1823Thr)
|
|
|
NM_001042492.3(NF1):c.5467T>C (p.Ser1823Pro)
|
rs1555533592
|
|
NM_001042492.3(NF1):c.5471T>G (p.Ile1824Ser)
|
|
|
NM_001042492.3(NF1):c.5476C>T (p.His1826Tyr)
|
|
|
NM_001042492.3(NF1):c.5477A>G (p.His1826Arg)
|
rs878853902
|
|
NM_001042492.3(NF1):c.5479A>G (p.Ile1827Val)
|
rs1299780528
|
|
NM_001042492.3(NF1):c.547A>G (p.Ile183Val)
|
|
|
NM_001042492.3(NF1):c.5480T>G (p.Ile1827Ser)
|
|
|
NM_001042492.3(NF1):c.5481C>G (p.Ile1827Met)
|
rs1555533607
|
|
NM_001042492.3(NF1):c.5482C>T (p.Arg1828Trp)
|
rs1555533609
|
|
NM_001042492.3(NF1):c.5483G>A (p.Arg1828Gln)
|
rs876660298
|
|
NM_001042492.3(NF1):c.5486C>A (p.Thr1829Asn)
|
|
|
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His)
|
rs771529172
|
|
NM_001042492.3(NF1):c.5494G>C (p.Glu1832Gln)
|
|
|
NM_001042492.3(NF1):c.5497C>G (p.Leu1833Val)
|
rs372932380
|
|
NM_001042492.3(NF1):c.5504A>G (p.Gln1835Arg)
|
rs876660025
|
|
NM_001042492.3(NF1):c.5505G>T (p.Gln1835His)
|
rs1555533615
|
|
NM_001042492.3(NF1):c.5516T>C (p.Ile1839Thr)
|
rs1597832296
|
|
NM_001042492.3(NF1):c.551A>T (p.Asn184Ile)
|
|
|
NM_001042492.3(NF1):c.5522A>G (p.Gln1841Arg)
|
|
|
NM_001042492.3(NF1):c.5524C>G (p.His1842Asp)
|
rs1597832336
|
|
NM_001042492.3(NF1):c.5524C>T (p.His1842Tyr)
|
|
|
NM_001042492.3(NF1):c.5531A>G (p.Lys1844Arg)
|
rs2069383981
|
|
NM_001042492.3(NF1):c.5532G>T (p.Lys1844Asn)
|
rs2151541680
|
|
NM_001042492.3(NF1):c.5536C>G (p.Arg1846Gly)
|
rs769843989
|
|
NM_001042492.3(NF1):c.5537G>A (p.Arg1846Gln)
|
rs2069384348
|
|
NM_001042492.3(NF1):c.5539C>T (p.Pro1847Ser)
|
rs2069384394
|
|
NM_001042492.3(NF1):c.5540C>G (p.Pro1847Arg)
|
rs1555533631
|
|
NM_001042492.3(NF1):c.5540C>T (p.Pro1847Leu)
|
rs1555533631
|
|
NM_001042492.3(NF1):c.5545G>C (p.Asp1849His)
|
|
|
NM_001042492.3(NF1):c.5546A>G (p.Asp1849Gly)
|
|
|
NM_001042492.3(NF1):c.5548G>A (p.Val1850Ile)
|
rs1597832397
|
|
NM_001042492.3(NF1):c.5563C>T (p.Leu1855Phe)
|
rs2069385474
|
|
NM_001042492.3(NF1):c.5564T>C (p.Leu1855Pro)
|
rs2069385520
|
|
NM_001042492.3(NF1):c.5566A>G (p.Asn1856Asp)
|
|
|
NM_001042492.3(NF1):c.5571C>G (p.Ile1857Met)
|
rs771837192
|
|
NM_001042492.3(NF1):c.5572G>A (p.Ala1858Thr)
|
rs786203416
|
|
NM_001042492.3(NF1):c.5572G>T (p.Ala1858Ser)
|
rs786203416
|
|
NM_001042492.3(NF1):c.5577A>C (p.Leu1859Phe)
|
rs876659180
|
|
NM_001042492.3(NF1):c.5582A>G (p.Asn1861Ser)
|
rs1555533647
|
|
NM_001042492.3(NF1):c.5587G>A (p.Gly1863Ser)
|
rs1060500332
|
|
NM_001042492.3(NF1):c.5588G>A (p.Gly1863Asp)
|
rs1597832460
|
|
NM_001042492.3(NF1):c.5594C>G (p.Ser1865Cys)
|
|
|
NM_001042492.3(NF1):c.5597A>G (p.Asp1866Gly)
|
|
|
NM_001042492.3(NF1):c.5609+4G>A
|
|
|
NM_001042492.3(NF1):c.5610-5C>G
|
rs2151544379
|
|
NM_001042492.3(NF1):c.5610-5C>T
|
rs2151544379
|
|
NM_001042492.3(NF1):c.5617G>A (p.Ala1873Thr)
|
rs1597834618
|
|
NM_001042492.3(NF1):c.5621A>T (p.Tyr1874Phe)
|
|
|
NM_001042492.3(NF1):c.5627T>A (p.Leu1876His)
|
|
|
NM_001042492.3(NF1):c.562G>A (p.Ala188Thr)
|
rs778975931
|
|
NM_001042492.3(NF1):c.5636C>T (p.Ala1879Val)
|
rs1555533845
|
|
NM_001042492.3(NF1):c.5641A>T (p.Thr1881Ser)
|
|
|
NM_001042492.3(NF1):c.5642C>A (p.Thr1881Asn)
|
rs876658349
|
|
NM_001042492.3(NF1):c.5642C>T (p.Thr1881Ile)
|
rs876658349
|
|
NM_001042492.3(NF1):c.5645G>A (p.Cys1882Tyr)
|
rs1597834656
|
|
NM_001042492.3(NF1):c.5648C>T (p.Thr1883Ile)
|
|
|
NM_001042492.3(NF1):c.5668G>A (p.Gly1890Ser)
|
|
|
NM_001042492.3(NF1):c.5669G>T (p.Gly1890Val)
|
rs1567613630
|
|
NM_001042492.3(NF1):c.5673G>T (p.Gln1891His)
|
rs1555533857
|
|
NM_001042492.3(NF1):c.5677C>G (p.Leu1893Val)
|
|
|
NM_001042492.3(NF1):c.567A>C (p.Lys189Asn)
|
|
|
NM_001042492.3(NF1):c.5690G>T (p.Gly1897Val)
|
rs1597834751
|
|
NM_001042492.3(NF1):c.5698A>G (p.Ile1900Val)
|
|
|
NM_001042492.3(NF1):c.5705C>A (p.Ala1902Asp)
|
rs1465309384
|
|
NM_001042492.3(NF1):c.5705C>G (p.Ala1902Gly)
|
|
|
NM_001042492.3(NF1):c.5705C>T (p.Ala1902Val)
|
rs1465309384
|
|
NM_001042492.3(NF1):c.5709C>G (p.Asn1903Lys)
|
rs1597834780
|
|
NM_001042492.3(NF1):c.570A>T (p.Leu190Phe)
|
rs2143708067
|
|
NM_001042492.3(NF1):c.5711A>C (p.Asn1904Thr)
|
rs864622647
|
|
NM_001042492.3(NF1):c.5719T>C (p.Phe1907Leu)
|
rs876660040
|
|
NM_001042492.3(NF1):c.5721T>A (p.Phe1907Leu)
|
rs1555533868
|
|
NM_001042492.3(NF1):c.5725G>A (p.Val1909Ile)
|
|
|
NM_001042492.3(NF1):c.5729C>G (p.Ser1910Cys)
|
rs751904277
|
|
NM_001042492.3(NF1):c.572A>C (p.Lys191Thr)
|
rs1555607113
|
|
NM_001042492.3(NF1):c.5741C>A (p.Thr1914Lys)
|
rs1555533873
|
|
NM_001042492.3(NF1):c.5743C>G (p.Leu1915Val)
|
|
|
NM_001042492.3(NF1):c.5747C>T (p.Ala1916Val)
|
|
|
NM_001042492.3(NF1):c.5750C>A (p.Ala1917Asp)
|
rs2069452996
|
|
NM_001042492.3(NF1):c.5752A>G (p.Asn1918Asp)
|
|
|
NM_001042492.3(NF1):c.5764C>T (p.Leu1922Phe)
|
rs1597834892
|
|
NM_001042492.3(NF1):c.5785G>C (p.Glu1929Gln)
|
|
|
NM_001042492.3(NF1):c.5788T>A (p.Cys1930Ser)
|
rs2069454402
|
|
NM_001042492.3(NF1):c.5792T>A (p.Ile1931Asn)
|
|
|
NM_001042492.3(NF1):c.5800T>C (p.Phe1934Leu)
|
rs2151544983
|
|
NM_001042492.3(NF1):c.5801T>G (p.Phe1934Cys)
|
rs2151544987
|
|
NM_001042492.3(NF1):c.5804G>A (p.Ser1935Asn)
|
|
|
NM_001042492.3(NF1):c.5810C>A (p.Ser1937Tyr)
|
|
|
NM_001042492.3(NF1):c.5812+2dup
|
rs1597834973
|
|
NM_001042492.3(NF1):c.5812+3A>G
|
rs1597834976
|
|
NM_001042492.3(NF1):c.5812A>G (p.Ser1938Gly)
|
rs1555533885
|
|
NM_001042492.3(NF1):c.5813-3C>T
|
rs2151550224
|
|
NM_001042492.3(NF1):c.5813G>A (p.Ser1938Asn)
|
rs906075234
|
|
NM_001042492.3(NF1):c.5815A>G (p.Ile1939Val)
|
rs1173859882
|
|
NM_001042492.3(NF1):c.5816T>C (p.Ile1939Thr)
|
rs1304057833
|
|
NM_001042492.3(NF1):c.5821T>A (p.Leu1941Met)
|
|
|
NM_001042492.3(NF1):c.5834G>A (p.Cys1945Tyr)
|
|
|
NM_001042492.3(NF1):c.5837T>G (p.Leu1946Trp)
|
rs1597840024
|
|
NM_001042492.3(NF1):c.5851C>G (p.Pro1951Ala)
|
rs1555534391
|
|
NM_001042492.3(NF1):c.5852C>A (p.Pro1951Gln)
|
|
|
NM_001042492.3(NF1):c.586+3A>C
|
|
|
NM_001042492.3(NF1):c.586+4A>G
|
rs1597644028
|
|
NM_001042492.3(NF1):c.5866C>A (p.Leu1956Ile)
|
rs747678243
|
|
NM_001042492.3(NF1):c.5867T>C (p.Leu1956Pro)
|
rs1597840087
|
|
NM_001042492.3(NF1):c.5867T>G (p.Leu1956Arg)
|
rs1597840087
|
|
NM_001042492.3(NF1):c.587-3C>G
|
rs375188075
|
|
NM_001042492.3(NF1):c.5870T>G (p.Val1957Gly)
|
|
|
NM_001042492.3(NF1):c.5885A>G (p.His1962Arg)
|
rs1555534402
|
|
NM_001042492.3(NF1):c.5887_5889del (p.Asn1963del)
|
rs1555534403
|
|
NM_001042492.3(NF1):c.5891A>G (p.Asp1964Gly)
|
|
|
NM_001042492.3(NF1):c.5897C>T (p.Ala1966Val)
|
|
|
NM_001042492.3(NF1):c.589A>G (p.Thr197Ala)
|
rs1171626658
|
|
NM_001042492.3(NF1):c.5900A>G (p.Lys1967Arg)
|
rs1567615807
|
|
NM_001042492.3(NF1):c.5903G>A (p.Arg1968Gln)
|
|
|
NM_001042492.3(NF1):c.5918C>G (p.Ala1973Gly)
|
rs1597840153
|
|
NM_001042492.3(NF1):c.5920A>G (p.Ile1974Val)
|
rs1597840159
|
|
NM_001042492.3(NF1):c.5924T>A (p.Leu1975His)
|
rs1555534411
|
|
NM_001042492.3(NF1):c.5926G>C (p.Asp1976His)
|
|
|
NM_001042492.3(NF1):c.5927A>G (p.Asp1976Gly)
|
|
|
NM_001042492.3(NF1):c.5928C>A (p.Asp1976Glu)
|
rs568852704
|
|
NM_001042492.3(NF1):c.592G>A (p.Ala198Thr)
|
rs1555608643
|
|
NM_001042492.3(NF1):c.5931G>C (p.Lys1977Asn)
|
|
|
NM_001042492.3(NF1):c.5937A>G (p.Ile1979Met)
|
rs1555534418
|
|
NM_001042492.3(NF1):c.5939C>T (p.Thr1980Ile)
|
rs1060500336
|
|
NM_001042492.3(NF1):c.5959C>G (p.Gln1987Glu)
|
rs876659070
|
|
NM_001042492.3(NF1):c.5961G>C (p.Gln1987His)
|
rs757536610
|
|
NM_001042492.3(NF1):c.596T>A (p.Phe199Tyr)
|
|
|
NM_001042492.3(NF1):c.5971T>A (p.Ser1991Thr)
|
|
|
NM_001042492.3(NF1):c.5989T>C (p.Trp1997Arg)
|
rs1597840306
|
|
NM_001042492.3(NF1):c.5995A>T (p.Ser1999Cys)
|
rs753703741
|
|
NM_001042492.3(NF1):c.5998C>G (p.Leu2000Val)
|
rs1555534429
|
|
NM_001042492.3(NF1):c.5998C>T (p.Leu2000Phe)
|
rs1555534429
|
|
NM_001042492.3(NF1):c.6005A>C (p.Gln2002Pro)
|
|
|
NM_001042492.3(NF1):c.6009T>G (p.Ile2003Met)
|
|
|
NM_001042492.3(NF1):c.6011C>T (p.Thr2004Ile)
|
rs1597842207
|
|
NM_001042492.3(NF1):c.6017T>C (p.Leu2006Pro)
|
|
|
NM_001042492.3(NF1):c.6019C>G (p.Leu2007Val)
|
|
|
NM_001042492.3(NF1):c.6028G>C (p.Val2010Leu)
|
|
|
NM_001042492.3(NF1):c.6037A>G (p.Ser2013Gly)
|
rs876658710
|
|
NM_001042492.3(NF1):c.6038G>A (p.Ser2013Asn)
|
rs1567616663
|
|
NM_001042492.3(NF1):c.6043A>G (p.Ile2015Val)
|
rs2151553260
|
|
NM_001042492.3(NF1):c.6052A>C (p.Ser2018Arg)
|
rs2151553286
|
|
NM_001042492.3(NF1):c.6055G>C (p.Ala2019Pro)
|
rs2069669625
|
|
NM_001042492.3(NF1):c.6056C>T (p.Ala2019Val)
|
rs1567616673
|
|
NM_001042492.3(NF1):c.6058A>G (p.Thr2020Ala)
|
rs1597842258
|
|
NM_001042492.3(NF1):c.6059C>T (p.Thr2020Ile)
|
|
|
NM_001042492.3(NF1):c.6062G>A (p.Gly2021Asp)
|
rs1555534605
|
|
NM_001042492.3(NF1):c.6065G>T (p.Gly2022Val)
|
rs1555534606
|
|
NM_001042492.3(NF1):c.6076A>G (p.Ile2026Val)
|
rs1376868609
|
|
NM_001042492.3(NF1):c.6089T>C (p.Val2030Ala)
|
|
|
NM_001042492.3(NF1):c.6091A>T (p.Met2031Leu)
|
|
|
NM_001042492.3(NF1):c.6093G>A (p.Met2031Ile)
|
rs1597842296
|
|
NM_001042492.3(NF1):c.6099T>A (p.Asp2033Glu)
|
rs1597842300
|
|
NM_001042492.3(NF1):c.6116C>T (p.Ala2039Val)
|
rs1555534614
|
|
NM_001042492.3(NF1):c.6121G>A (p.Gly2041Arg)
|
rs1555534616
|
|
NM_001042492.3(NF1):c.6124A>G (p.Asn2042Asp)
|
rs2151553540
|
|
NM_001042492.3(NF1):c.6130A>G (p.Lys2044Glu)
|
|
|
NM_001042492.3(NF1):c.6131A>G (p.Lys2044Arg)
|
|
|
NM_001042492.3(NF1):c.6135G>T (p.Leu2045Phe)
|
|
|
NM_001042492.3(NF1):c.613A>G (p.Lys205Glu)
|
|
|
NM_001042492.3(NF1):c.6146A>C (p.Lys2049Thr)
|
|
|
NM_001042492.3(NF1):c.6146A>T (p.Lys2049Met)
|
|
|
NM_001042492.3(NF1):c.6147+5T>C
|
rs1597842332
|
|
NM_001042492.3(NF1):c.6147G>C (p.Lys2049Asn)
|
rs1135402882
|
|
NM_001042492.3(NF1):c.6148-18A>G
|
|
|
NM_001042492.3(NF1):c.6148-4A>T
|
rs1597842686
|
|
NM_001042492.3(NF1):c.6148G>A (p.Val2050Ile)
|
|
|
NM_001042492.3(NF1):c.614A>G (p.Lys205Arg)
|
rs1555608659
|
|
NM_001042492.3(NF1):c.6158G>A (p.Arg2053Lys)
|
rs1060500289
|
|
NM_001042492.3(NF1):c.6159G>C (p.Arg2053Ser)
|
|
|
NM_001042492.3(NF1):c.615G>A (p.Lys205=)
|
rs1135402794
|
|
NM_001042492.3(NF1):c.6160A>T (p.Met2054Leu)
|
rs1037341012
|
|
NM_001042492.3(NF1):c.6162G>A (p.Met2054Ile)
|
rs876660651
|
|
NM_001042492.3(NF1):c.6166A>C (p.Lys2056Gln)
|
rs1555534667
|
|
NM_001042492.3(NF1):c.616A>G (p.Lys206Glu)
|
rs1060500269
|
|
NM_001042492.3(NF1):c.6170T>C (p.Ile2057Thr)
|
|
|
NM_001042492.3(NF1):c.6175G>A (p.Asp2059Asn)
|
rs761029453
|
|
NM_001042492.3(NF1):c.6185G>C (p.Cys2062Ser)
|
rs1555534668
|
|
NM_001042492.3(NF1):c.6189A>C (p.Leu2063Phe)
|
|
|
NM_001042492.3(NF1):c.618G>C (p.Lys206Asn)
|
rs1567825917
|
|
NM_001042492.3(NF1):c.6196A>G (p.Thr2066Ala)
|
rs1567616928
|
|
NM_001042492.3(NF1):c.61C>A (p.Leu21Ile)
|
|
|
NM_001042492.3(NF1):c.6203C>G (p.Thr2068Ser)
|
rs876659172
|
|
NM_001042492.3(NF1):c.6212A>G (p.Gln2071Arg)
|
rs1597842800
|
|
NM_001042492.3(NF1):c.6226G>T (p.Asp2076Tyr)
|
|
|
NM_001042492.3(NF1):c.6227A>G (p.Asp2076Gly)
|
rs1597842820
|
|
NM_001042492.3(NF1):c.6229G>A (p.Asp2077Asn)
|
rs1597842830
|
|
NM_001042492.3(NF1):c.6230A>T (p.Asp2077Val)
|
rs1555534684
|
|
NM_001042492.3(NF1):c.6238A>G (p.Ile2080Val)
|
rs2069684102
|
|
NM_001042492.3(NF1):c.6257T>C (p.Leu2086Pro)
|
|
|
NM_001042492.3(NF1):c.6263T>C (p.Leu2088Pro)
|
rs137854561
|
|
NM_001042492.3(NF1):c.6268T>C (p.Phe2090Leu)
|
rs2069685496
|
|
NM_001042492.3(NF1):c.6270C>G (p.Phe2090Leu)
|
rs1597842872
|
|
NM_001042492.3(NF1):c.6272A>G (p.Asn2091Ser)
|
rs1555534696
|
|
NM_001042492.3(NF1):c.6280C>T (p.Leu2094Phe)
|
rs2069686019
|
|
NM_001042492.3(NF1):c.6293C>T (p.Ala2098Val)
|
rs764106639
|
|
NM_001042492.3(NF1):c.6295C>G (p.His2099Asp)
|
|
|
NM_001042492.3(NF1):c.6295C>T (p.His2099Tyr)
|
rs1060500382
|
|
NM_001042492.3(NF1):c.6296A>G (p.His2099Arg)
|
|
|
NM_001042492.3(NF1):c.62T>A (p.Leu21His)
|
rs1567814403
|
|
NM_001042492.3(NF1):c.6302C>G (p.Pro2101Arg)
|
rs756746198
|
|
NM_001042492.3(NF1):c.6305A>T (p.Tyr2102Phe)
|
rs1162388561
|
|
NM_001042492.3(NF1):c.6307C>T (p.Leu2103Phe)
|
rs1555534719
|
|
NM_001042492.3(NF1):c.6310T>C (p.Phe2104Leu)
|
rs876660000
|
|
NM_001042492.3(NF1):c.6316GTT[3] (p.Val2107_Thr2108insVal)
|
|
|
NM_001042492.3(NF1):c.6317T>C (p.Val2106Ala)
|
rs1597843007
|
|
NM_001042492.3(NF1):c.6322A>G (p.Thr2108Ala)
|
|
|
NM_001042492.3(NF1):c.6323C>T (p.Thr2108Ile)
|
rs876658920
|
|
NM_001042492.3(NF1):c.632C>T (p.Ala211Val)
|
rs1555608675
|
|
NM_001042492.3(NF1):c.6337A>T (p.Thr2113Ser)
|
|
|
NM_001042492.3(NF1):c.6338C>A (p.Thr2113Lys)
|
rs768982249
|
|
NM_001042492.3(NF1):c.6344C>G (p.Pro2115Arg)
|
rs867091831
|
|
NM_001042492.3(NF1):c.6344C>T (p.Pro2115Leu)
|
rs867091831
|
|
NM_001042492.3(NF1):c.6346C>G (p.Leu2116Val)
|
|
|
NM_001042492.3(NF1):c.6365C>T (p.Thr2122Ile)
|
rs878853907
|
|
NM_001042492.3(NF1):c.6368A>T (p.His2123Leu)
|
rs112546213
|
|
NM_001042492.3(NF1):c.6369T>G (p.His2123Gln)
|
|
|
NM_001042492.3(NF1):c.6370G>A (p.Gly2124Arg)
|
|
|
NM_001042492.3(NF1):c.6379A>T (p.Ile2127Phe)
|
|
|
NM_001042492.3(NF1):c.6385A>G (p.Ile2129Val)
|
rs2151555054
|
|
NM_001042492.3(NF1):c.6386T>C (p.Ile2129Thr)
|
rs1287981187
|
|
NM_001042492.3(NF1):c.638T>C (p.Ile213Thr)
|
|
|
NM_001042492.3(NF1):c.639A>G (p.Ile213Met)
|
|
|
NM_001042492.3(NF1):c.6403A>C (p.Thr2135Pro)
|
rs1555534767
|
|
NM_001042492.3(NF1):c.6403A>G (p.Thr2135Ala)
|
|
|
NM_001042492.3(NF1):c.6403A>T (p.Thr2135Ser)
|
rs1555534767
|
|
NM_001042492.3(NF1):c.6424A>C (p.Ser2142Arg)
|
rs1135402886
|
|
NM_001042492.3(NF1):c.6425G>T (p.Ser2142Ile)
|
|
|
NM_001042492.3(NF1):c.6427+2T>C
|
rs1567617158
|
|
NM_001042492.3(NF1):c.6427+3A>G
|
|
|
NM_001042492.3(NF1):c.6427+5G>A
|
rs1060500311
|
|
NM_001042492.3(NF1):c.6428-5T>C
|
rs1597843627
|
|
NM_001042492.3(NF1):c.6430G>C (p.Glu2144Gln)
|
|
|
NM_001042492.3(NF1):c.6432G>C (p.Glu2144Asp)
|
|
|
NM_001042492.3(NF1):c.6436A>G (p.Lys2146Glu)
|
rs1597843675
|
|
NM_001042492.3(NF1):c.6437A>G (p.Lys2146Arg)
|
rs1597843678
|
|
NM_001042492.3(NF1):c.6440A>G (p.Gln2147Arg)
|
rs1597843700
|
|
NM_001042492.3(NF1):c.6441A>C (p.Gln2147His)
|
rs1597843705
|
|
NM_001042492.3(NF1):c.644G>C (p.Ser215Thr)
|
|
|
NM_001042492.3(NF1):c.6451C>T (p.Leu2151Phe)
|
|
|
NM_001042492.3(NF1):c.6454A>G (p.Ser2152Gly)
|
|
|
NM_001042492.3(NF1):c.6461C>T (p.Thr2154Ile)
|
rs876658495
|
|
NM_001042492.3(NF1):c.6475C>T (p.Pro2159Ser)
|
rs2151556095
|
|
NM_001042492.3(NF1):c.6476C>G (p.Pro2159Arg)
|
|
|
NM_001042492.3(NF1):c.6482T>A (p.Phe2161Tyr)
|
|
|
NM_001042492.3(NF1):c.6485A>T (p.Tyr2162Phe)
|
|
|
NM_001042492.3(NF1):c.6488T>C (p.Leu2163Ser)
|
rs1353492847
|
|
NM_001042492.3(NF1):c.6497G>T (p.Gly2166Val)
|
|
|
NM_001042492.3(NF1):c.6499A>C (p.Ile2167Leu)
|
rs2069704731
|
|
NM_001042492.3(NF1):c.6499A>T (p.Ile2167Phe)
|
|
|
NM_001042492.3(NF1):c.650A>G (p.Glu217Gly)
|
|
|
NM_001042492.3(NF1):c.6520G>A (p.Ala2174Thr)
|
rs2069705000
|
|
NM_001042492.3(NF1):c.6523G>A (p.Val2175Ile)
|
|
|
NM_001042492.3(NF1):c.6525C>T (p.Val2175=)
|
rs761686171
|
|
NM_001042492.3(NF1):c.6526A>G (p.Ile2176Val)
|
rs2069705304
|
|
NM_001042492.3(NF1):c.6535C>T (p.Arg2179Cys)
|
rs878853908
|
|
NM_001042492.3(NF1):c.6536G>A (p.Arg2179His)
|
rs772639479
|
|
NM_001042492.3(NF1):c.6536G>T (p.Arg2179Leu)
|
rs772639479
|
|
NM_001042492.3(NF1):c.6541A>C (p.Ser2181Arg)
|
|
|
NM_001042492.3(NF1):c.6545A>G (p.Tyr2182Cys)
|
rs2069705839
|
|
NM_001042492.3(NF1):c.6548G>A (p.Arg2183Gln)
|
rs2069706142
|
|
NM_001042492.3(NF1):c.654G>A (p.Lys218=)
|
|
|
NM_001042492.3(NF1):c.655-5T>C
|
rs377264487
|
|
NM_001042492.3(NF1):c.6550G>A (p.Asp2184Asn)
|
rs1597843887
|
|
NM_001042492.3(NF1):c.6550G>C (p.Asp2184His)
|
|
|
NM_001042492.3(NF1):c.6553A>G (p.Arg2185Gly)
|
|
|
NM_001042492.3(NF1):c.6556T>G (p.Ser2186Ala)
|
|
|
NM_001042492.3(NF1):c.6559T>G (p.Phe2187Val)
|
|
|
NM_001042492.3(NF1):c.655G>C (p.Ala219Pro)
|
rs2066137928
|
|
NM_001042492.3(NF1):c.6563C>T (p.Ser2188Phe)
|
rs1555534877
|
|
NM_001042492.3(NF1):c.6569G>T (p.Gly2190Val)
|
|
|
NM_001042492.3(NF1):c.656C>G (p.Ala219Gly)
|
rs1160353919
|
|
NM_001042492.3(NF1):c.656C>T (p.Ala219Val)
|
rs1160353919
|
|
NM_001042492.3(NF1):c.6571T>G (p.Ser2191Ala)
|
|
|
NM_001042492.3(NF1):c.6572C>G (p.Ser2191Cys)
|
rs765598479
|
|
NM_001042492.3(NF1):c.6572C>T (p.Ser2191Phe)
|
rs765598479
|
|
NM_001042492.3(NF1):c.6574T>C (p.Tyr2192His)
|
rs267606598
|
|
NM_001042492.3(NF1):c.6575A>G (p.Tyr2192Cys)
|
|
|
NM_001042492.3(NF1):c.6583G>C (p.Glu2195Gln)
|
rs1597843959
|
|
NM_001042492.3(NF1):c.6586A>G (p.Thr2196Ala)
|
rs372169109
|
|
NM_001042492.3(NF1):c.6592G>A (p.Ala2198Thr)
|
rs1555534882
|
|
NM_001042492.3(NF1):c.6593C>G (p.Ala2198Gly)
|
rs1597843976
|
|
NM_001042492.3(NF1):c.6597G>C (p.Leu2199Phe)
|
rs2151556504
|
|
NM_001042492.3(NF1):c.6602C>T (p.Ser2201Phe)
|
rs2151556524
|
|
NM_001042492.3(NF1):c.6611C>T (p.Thr2204Ile)
|
rs1597843996
|
|
NM_001042492.3(NF1):c.6616A>C (p.Thr2206Pro)
|
|
|
NM_001042492.3(NF1):c.6616A>G (p.Thr2206Ala)
|
rs781167415
|
|
NM_001042492.3(NF1):c.6630G>C (p.Leu2210Phe)
|
rs886052801
|
|
NM_001042492.3(NF1):c.6635T>A (p.Ile2212Asn)
|
rs1597844075
|
|
NM_001042492.3(NF1):c.6637A>G (p.Met2213Val)
|
rs864622330
|
|
NM_001042492.3(NF1):c.6637A>T (p.Met2213Leu)
|
|
|
NM_001042492.3(NF1):c.6642+3A>G
|
rs1555534891
|
|
NM_001042492.3(NF1):c.6642+5A>G
|
rs1567617536
|
|
NM_001042492.3(NF1):c.6642G>A (p.Glu2214=)
|
rs876660207
|
|
NM_001042492.3(NF1):c.6643-4T>C
|
rs1555534908
|
|
NM_001042492.3(NF1):c.6643-5T>G
|
rs1555534907
|
|
NM_001042492.3(NF1):c.6646T>C (p.Cys2216Arg)
|
rs757736155
|
|
NM_001042492.3(NF1):c.6647G>A (p.Cys2216Tyr)
|
|
|
NM_001042492.3(NF1):c.6647G>T (p.Cys2216Phe)
|
rs1567617669
|
|
NM_001042492.3(NF1):c.6649A>G (p.Met2217Val)
|
rs876658255
|
|
NM_001042492.3(NF1):c.6656A>G (p.Asp2219Gly)
|
|
|
NM_001042492.3(NF1):c.6657T>G (p.Asp2219Glu)
|
rs786203831
|
|
NM_001042492.3(NF1):c.665A>C (p.Asn222Thr)
|
rs587781709
|
|
NM_001042492.3(NF1):c.6664A>T (p.Thr2222Ser)
|
|
|
NM_001042492.3(NF1):c.6664_6665inv (p.Thr2222Val)
|
|
|
NM_001042492.3(NF1):c.6679G>A (p.Asp2227Asn)
|
rs993364800
|
|
NM_001042492.3(NF1):c.6681C>A (p.Asp2227Glu)
|
rs876659371
|
|
NM_001042492.3(NF1):c.6683A>G (p.Gln2228Arg)
|
|
|
NM_001042492.3(NF1):c.6691G>A (p.Glu2231Lys)
|
rs1024484381
|
|
NM_001042492.3(NF1):c.6691G>C (p.Glu2231Gln)
|
|
|
NM_001042492.3(NF1):c.6694C>G (p.Leu2232Val)
|
rs1597844673
|
|
NM_001042492.3(NF1):c.6697G>A (p.Ala2233Thr)
|
rs2069718829
|
|
NM_001042492.3(NF1):c.6698C>T (p.Ala2233Val)
|
|
|
NM_001042492.3(NF1):c.6701A>G (p.Gln2234Arg)
|
rs1597844689
|
|
NM_001042492.3(NF1):c.6704+4T>C
|
rs1555534930
|
|
NM_001042492.3(NF1):c.6704G>T (p.Arg2235Ile)
|
rs2069719031
|
|
NM_001042492.3(NF1):c.6705-4del
|
|
|
NM_001042492.3(NF1):c.6709G>A (p.Ala2237Thr)
|
|
|
NM_001042492.3(NF1):c.6713T>C (p.Phe2238Ser)
|
rs1555534947
|
|
NM_001042492.3(NF1):c.6714C>A (p.Phe2238Leu)
|
rs2069724756
|
|
NM_001042492.3(NF1):c.6746T>G (p.Leu2249Arg)
|
rs2151558158
|
|
NM_001042492.3(NF1):c.6748G>C (p.Val2250Leu)
|
|
|
NM_001042492.3(NF1):c.6756T>G (p.Phe2252Leu)
|
rs1597845056
|
|
NM_001042492.3(NF1):c.6763A>C (p.Ile2255Leu)
|
|
|
NM_001042492.3(NF1):c.6767G>T (p.Ser2256Ile)
|
|
|
NM_001042492.3(NF1):c.6772C>G (p.Arg2258Gly)
|
|
|
NM_001042492.3(NF1):c.6775G>A (p.Val2259Met)
|
rs1348782175
|
|
NM_001042492.3(NF1):c.6775G>T (p.Val2259Leu)
|
|
|
NM_001042492.3(NF1):c.6776T>C (p.Val2259Ala)
|
rs1597845104
|
|
NM_001042492.3(NF1):c.677A>C (p.Asn226Thr)
|
rs770339628
|
|
NM_001042492.3(NF1):c.6782A>G (p.His2261Arg)
|
rs201336602
|
|
NM_001042492.3(NF1):c.6782A>T (p.His2261Leu)
|
|
|
NM_001042492.3(NF1):c.6784G>T (p.Gly2262Trp)
|
rs1392981001
|
|
NM_001042492.3(NF1):c.6790A>G (p.Ile2264Val)
|
rs761213794
|
|
NM_001042492.3(NF1):c.6793A>G (p.Lys2265Glu)
|
|
|
NM_001042492.3(NF1):c.679T>C (p.Tyr227His)
|
rs780682850
|
|
NM_001042492.3(NF1):c.6800T>C (p.Ile2267Thr)
|
rs1555534957
|
|
NM_001042492.3(NF1):c.6801A>G (p.Ile2267Met)
|
rs876659381
|
|
NM_001042492.3(NF1):c.6805C>T (p.Arg2269Cys)
|
rs1555534961
|
|
NM_001042492.3(NF1):c.6808A>G (p.Ile2270Val)
|
|
|
NM_001042492.3(NF1):c.6811C>G (p.Leu2271Val)
|
|
|
NM_001042492.3(NF1):c.6819+4C>A
|
rs755135948
|
|
NM_001042492.3(NF1):c.6820-2del
|
|
|
NM_001042492.3(NF1):c.6820-3A>G
|
|
|
NM_001042492.3(NF1):c.6820-5A>G
|
rs1555535022
|
|
NM_001042492.3(NF1):c.6826G>A (p.Glu2276Lys)
|
rs2069742475
|
|
NM_001042492.3(NF1):c.6845C>G (p.Pro2282Arg)
|
rs2069743547
|
|
NM_001042492.3(NF1):c.6853T>C (p.Tyr2285His)
|
|
|
NM_001042492.3(NF1):c.6854_6855insTGA (p.Tyr2285_Asn2286insAsp)
|
|
|
NM_001042492.3(NF1):c.6858C>G (p.Asn2286Lys)
|
rs2151559216
|
|
NM_001042492.3(NF1):c.685G>C (p.Asp229His)
|
rs2066138591
|
|
NM_001042492.3(NF1):c.6862C>G (p.Gln2288Glu)
|
|
|
NM_001042492.3(NF1):c.6869T>G (p.Leu2290Arg)
|
|
|
NM_001042492.3(NF1):c.686A>G (p.Asp229Gly)
|
rs1060500285
|
|
NM_001042492.3(NF1):c.6872T>C (p.Ile2291Thr)
|
|
|
NM_001042492.3(NF1):c.6881C>T (p.Thr2294Ile)
|
rs786201902
|
|
NM_001042492.3(NF1):c.6887T>C (p.Ile2296Thr)
|
rs1212022548
|
|
NM_001042492.3(NF1):c.688G>C (p.Glu230Gln)
|
|
|
NM_001042492.3(NF1):c.6892C>A (p.Leu2298Ile)
|
rs1555535049
|
|
NM_001042492.3(NF1):c.6893T>C (p.Leu2298Pro)
|
rs1597846070
|
|
NM_001042492.3(NF1):c.6896C>A (p.Thr2299Asn)
|
|
|
NM_001042492.3(NF1):c.689A>G (p.Glu230Gly)
|
|
|
NM_001042492.3(NF1):c.6905A>G (p.Gln2302Arg)
|
|
|
NM_001042492.3(NF1):c.6906G>T (p.Gln2302His)
|
|
|
NM_001042492.3(NF1):c.6917A>G (p.Asn2306Ser)
|
rs1597846107
|
|
NM_001042492.3(NF1):c.6918T>A (p.Asn2306Lys)
|
rs1597846111
|
|
NM_001042492.3(NF1):c.6922-3C>T
|
rs876659438
|
|
NM_001042492.3(NF1):c.6922G>A (p.Asp2308Asn)
|
rs775660003
|
|
NM_001042492.3(NF1):c.6925T>G (p.Ser2309Ala)
|
rs2151561428
|
|
NM_001042492.3(NF1):c.6926C>T (p.Ser2309Leu)
|
rs1555535159
|
|
NM_001042492.3(NF1):c.6928C>T (p.Pro2310Ser)
|
rs2069789708
|
|
NM_001042492.3(NF1):c.6931C>G (p.Leu2311Val)
|
rs1044698498
|
|
NM_001042492.3(NF1):c.693_694delinsCT (p.Thr232Ser)
|
rs1555608748
|
|
NM_001042492.3(NF1):c.6946T>C (p.Phe2316Leu)
|
|
|
NM_001042492.3(NF1):c.6948T>G (p.Phe2316Leu)
|
rs1597847958
|
|
NM_001042492.3(NF1):c.694A>G (p.Thr232Ala)
|
rs876660027
|
|
NM_001042492.3(NF1):c.694A>T (p.Thr232Ser)
|
rs876660027
|
|
NM_001042492.3(NF1):c.6952G>T (p.Val2318Leu)
|
rs760528229
|
|
NM_001042492.3(NF1):c.6955G>A (p.Ala2319Thr)
|
rs786203881
|
|
NM_001042492.3(NF1):c.6955G>T (p.Ala2319Ser)
|
rs786203881
|
|
NM_001042492.3(NF1):c.695C>A (p.Thr232Lys)
|
|
|
NM_001042492.3(NF1):c.695C>T (p.Thr232Ile)
|
rs769719064
|
|
NM_001042492.3(NF1):c.6973C>A (p.Leu2325Ile)
|
rs1597848038
|
|
NM_001042492.3(NF1):c.6976G>C (p.Asp2326His)
|
|
|
NM_001042492.3(NF1):c.697A>C (p.Lys233Gln)
|
rs922257267
|
|
NM_001042492.3(NF1):c.6980A>T (p.Glu2327Val)
|
rs1555535175
|
|
NM_001042492.3(NF1):c.6982G>A (p.Val2328Ile)
|
rs1597848066
|
|
NM_001042492.3(NF1):c.6985A>G (p.Asn2329Asp)
|
rs1597848075
|
|
NM_001042492.3(NF1):c.6994T>G (p.Ser2332Ala)
|
|
|
NM_001042492.3(NF1):c.6997G>T (p.Ala2333Ser)
|
rs1555535178
|
|
NM_001042492.3(NF1):c.699A>C (p.Lys233Asn)
|
rs1597658628
|
|
NM_001042492.3(NF1):c.69A>G (p.Ile23Met)
|
rs1555604870
|
|
NM_001042492.3(NF1):c.7000G>A (p.Gly2334Ser)
|
rs1597848100
|
|
NM_001042492.3(NF1):c.7001G>T (p.Gly2334Val)
|
|
|
NM_001042492.3(NF1):c.7004C>T (p.Thr2335Ile)
|
|
|
NM_001042492.3(NF1):c.7006G>T (p.Ala2336Ser)
|
rs587781428
|
|
NM_001042492.3(NF1):c.7009C>G (p.Leu2337Val)
|
|
|
NM_001042492.3(NF1):c.7021A>G (p.Asn2341Asp)
|
|
|
NM_001042492.3(NF1):c.7027C>T (p.His2343Tyr)
|
rs781578248
|
|
NM_001042492.3(NF1):c.702_703inv (p.Tyr235His)
|
|
|
NM_001042492.3(NF1):c.7030A>G (p.Thr2344Ala)
|
rs1555535189
|
|
NM_001042492.3(NF1):c.7031C>T (p.Thr2344Ile)
|
rs2069793613
|
|
NM_001042492.3(NF1):c.7033T>G (p.Leu2345Val)
|
|
|
NM_001042492.3(NF1):c.7036G>T (p.Asp2346Tyr)
|
|
|
NM_001042492.3(NF1):c.7037A>G (p.Asp2346Gly)
|
rs2151561935
|
|
NM_001042492.3(NF1):c.7038T>G (p.Asp2346Glu)
|
|
|
NM_001042492.3(NF1):c.7040G>C (p.Ser2347Thr)
|
rs1567619102
|
|
NM_001042492.3(NF1):c.7042C>T (p.Leu2348Phe)
|
|
|
NM_001042492.3(NF1):c.7043T>G (p.Leu2348Arg)
|
rs1597848222
|
|
NM_001042492.3(NF1):c.7046G>T (p.Arg2349Leu)
|
rs864622065
|
|
NM_001042492.3(NF1):c.7048A>C (p.Ile2350Leu)
|
rs1381254564
|
|
NM_001042492.3(NF1):c.7048A>G (p.Ile2350Val)
|
|
|
NM_001042492.3(NF1):c.7048A>T (p.Ile2350Leu)
|
|
|
NM_001042492.3(NF1):c.7049T>A (p.Ile2350Lys)
|
rs2069794814
|
|
NM_001042492.3(NF1):c.7049T>C (p.Ile2350Thr)
|
|
|
NM_001042492.3(NF1):c.7052T>A (p.Phe2351Tyr)
|
|
|
NM_001042492.3(NF1):c.7052T>C (p.Phe2351Ser)
|
|
|
NM_001042492.3(NF1):c.7057_7059del (p.Asp2353del)
|
rs786203558
|
|
NM_001042492.3(NF1):c.7061A>G (p.Lys2354Arg)
|
|
|
NM_001042492.3(NF1):c.7062G>A (p.Lys2354=)
|
rs184142864
|
|
NM_001042492.3(NF1):c.7063-3T>C
|
rs1241158120
|
|
NM_001042492.3(NF1):c.7063-4_7063-2del
|
rs1597851237
|
|
NM_001042492.3(NF1):c.7065T>A (p.Ser2355Arg)
|
|
|
NM_001042492.3(NF1):c.706C>G (p.Gln236Glu)
|
rs1597658664
|
|
NM_001042492.3(NF1):c.7070A>G (p.Glu2357Gly)
|
rs786203596
|
|
NM_001042492.3(NF1):c.7070A>T (p.Glu2357Val)
|
rs786203596
|
|
NM_001042492.3(NF1):c.7078T>G (p.Phe2360Val)
|
rs2069866148
|
|
NM_001042492.3(NF1):c.7083G>A (p.Met2361Ile)
|
rs1293010884
|
|
NM_001042492.3(NF1):c.708G>T (p.Gln236His)
|
|
|
NM_001042492.3(NF1):c.7090C>T (p.Arg2364Trp)
|
rs1567620403
|
|
NM_001042492.3(NF1):c.7097C>T (p.Pro2366Leu)
|
rs1597851311
|
|
NM_001042492.3(NF1):c.7099C>G (p.Leu2367Val)
|
rs1259241665
|
|
NM_001042492.3(NF1):c.709A>G (p.Ile237Val)
|
|
|
NM_001042492.3(NF1):c.7102G>A (p.Glu2368Lys)
|
rs2151565046
|
|
NM_001042492.3(NF1):c.7108C>T (p.His2370Tyr)
|
rs587781479
|
|
NM_001042492.3(NF1):c.7109A>T (p.His2370Leu)
|
|
|
NM_001042492.3(NF1):c.7110C>G (p.His2370Gln)
|
|
|
NM_001042492.3(NF1):c.7139T>C (p.Leu2380Pro)
|
rs1597851364
|
|
NM_001042492.3(NF1):c.713C>T (p.Pro238Leu)
|
rs1567826152
|
|
NM_001042492.3(NF1):c.7146C>G (p.Phe2382Leu)
|
rs2151565177
|
|
NM_001042492.3(NF1):c.7153A>G (p.Asn2385Asp)
|
rs1597851405
|
|
NM_001042492.3(NF1):c.7159A>T (p.Asn2387Tyr)
|
rs763556723
|
|
NM_001042492.3(NF1):c.7160A>G (p.Asn2387Ser)
|
|
|
NM_001042492.3(NF1):c.7166C>G (p.Ala2389Gly)
|
|
|
NM_001042492.3(NF1):c.7170G>C (p.Leu2390Phe)
|
rs751081026
|
|
NM_001042492.3(NF1):c.7172T>C (p.Val2391Ala)
|
rs2069869918
|
|
NM_001042492.3(NF1):c.7174G>A (p.Gly2392Arg)
|
|
|
NM_001042492.3(NF1):c.7178A>C (p.His2393Pro)
|
|
|
NM_001042492.3(NF1):c.7179C>A (p.His2393Gln)
|
rs2069870191
|
|
NM_001042492.3(NF1):c.7179C>G (p.His2393Gln)
|
rs2069870191
|
|
NM_001042492.3(NF1):c.7180C>A (p.Leu2394Ile)
|
rs1555535452
|
|
NM_001042492.3(NF1):c.7188A>G (p.Lys2396=)
|
rs202067626
|
|
NM_001042492.3(NF1):c.7189+4A>C
|
rs756834212
|
|
NM_001042492.3(NF1):c.7190-5T>C
|
rs748245325
|
|
NM_001042492.3(NF1):c.7190-5T>G
|
rs748245325
|
|
NM_001042492.3(NF1):c.7193A>G (p.Tyr2398Cys)
|
rs1567623401
|
|
NM_001042492.3(NF1):c.7195A>G (p.Arg2399Gly)
|
|
|
NM_001042492.3(NF1):c.7198C>T (p.His2400Tyr)
|
rs1567623421
|
|
NM_001042492.3(NF1):c.71A>G (p.Lys24Arg)
|
|
|
NM_001042492.3(NF1):c.7201C>T (p.Pro2401Ser)
|
rs1597858372
|
|
NM_001042492.3(NF1):c.7202C>T (p.Pro2401Leu)
|
|
|
NM_001042492.3(NF1):c.7214T>C (p.Ile2405Thr)
|
|
|
NM_001042492.3(NF1):c.7214T>G (p.Ile2405Ser)
|
|
|
NM_001042492.3(NF1):c.7217T>C (p.Val2406Ala)
|
rs950181978
|
|
NM_001042492.3(NF1):c.7219G>T (p.Ala2407Ser)
|
|
|
NM_001042492.3(NF1):c.721G>A (p.Asp241Asn)
|
rs2066139718
|
|
NM_001042492.3(NF1):c.721G>T (p.Asp241Tyr)
|
|
|
NM_001042492.3(NF1):c.7222A>G (p.Arg2408Gly)
|
|
|
NM_001042492.3(NF1):c.7223G>A (p.Arg2408Lys)
|
rs1597858407
|
|
NM_001042492.3(NF1):c.7224A>T (p.Arg2408Ser)
|
|
|
NM_001042492.3(NF1):c.7225A>G (p.Thr2409Ala)
|
rs1555536021
|
|
NM_001042492.3(NF1):c.7226C>T (p.Thr2409Ile)
|
rs1597858415
|
|
NM_001042492.3(NF1):c.7228G>A (p.Val2410Ile)
|
rs1060500372
|
|
NM_001042492.3(NF1):c.722A>G (p.Asp241Gly)
|
|
|
NM_001042492.3(NF1):c.7232G>C (p.Arg2411Thr)
|
|
|
NM_001042492.3(NF1):c.7234A>G (p.Ile2412Val)
|
|
|
NM_001042492.3(NF1):c.723T>A (p.Asp241Glu)
|
|
|
NM_001042492.3(NF1):c.7240C>G (p.His2414Asp)
|
|
|
NM_001042492.3(NF1):c.7240C>T (p.His2414Tyr)
|
rs2070075234
|
|
NM_001042492.3(NF1):c.7244C>A (p.Thr2415Lys)
|
|
|
NM_001042492.3(NF1):c.7246C>G (p.Leu2416Val)
|
rs786201310
|
|
NM_001042492.3(NF1):c.724A>G (p.Met242Val)
|
rs1555608762
|
|
NM_001042492.3(NF1):c.7256T>C (p.Leu2419Pro)
|
|
|
NM_001042492.3(NF1):c.7256T>G (p.Leu2419Arg)
|
rs2070075780
|
|
NM_001042492.3(NF1):c.725T>C (p.Met242Thr)
|
rs1555608765
|
|
NM_001042492.3(NF1):c.7261A>G (p.Asn2421Asp)
|
|
|
NM_001042492.3(NF1):c.7262A>G (p.Asn2421Ser)
|
rs774339063
|
|
NM_001042492.3(NF1):c.7265A>G (p.Lys2422Arg)
|
rs1597858501
|
|
NM_001042492.3(NF1):c.7266A>T (p.Lys2422Asn)
|
|
|
NM_001042492.3(NF1):c.7267C>T (p.His2423Tyr)
|
rs761299521
|
|
NM_001042492.3(NF1):c.7269C>G (p.His2423Gln)
|
|
|
NM_001042492.3(NF1):c.726G>A (p.Met242Ile)
|
|
|
NM_001042492.3(NF1):c.7271G>T (p.Arg2424Ile)
|
rs1555536029
|
|
NM_001042492.3(NF1):c.7272A>C (p.Arg2424Ser)
|
rs139997141
|
|
NM_001042492.3(NF1):c.7274A>C (p.Asn2425Thr)
|
|
|
NM_001042492.3(NF1):c.7274A>G (p.Asn2425Ser)
|
rs2070076752
|
|
NM_001042492.3(NF1):c.7276T>G (p.Cys2426Gly)
|
rs767059035
|
|
NM_001042492.3(NF1):c.7279G>C (p.Asp2427His)
|
rs1230353186
|
|
NM_001042492.3(NF1):c.7282A>C (p.Lys2428Gln)
|
|
|
NM_001042492.3(NF1):c.7283A>T (p.Lys2428Ile)
|
rs2070077385
|
|
NM_001042492.3(NF1):c.7292T>G (p.Val2431Gly)
|
rs2070077893
|
|
NM_001042492.3(NF1):c.7294A>C (p.Asn2432His)
|
|
|
NM_001042492.3(NF1):c.7295A>G (p.Asn2432Ser)
|
rs2070077965
|
|
NM_001042492.3(NF1):c.7297A>G (p.Thr2433Ala)
|
rs1597858568
|
|
NM_001042492.3(NF1):c.72A>T (p.Lys24Asn)
|
|
|
NM_001042492.3(NF1):c.7302G>C (p.Gln2434His)
|
|
|
NM_001042492.3(NF1):c.7303A>G (p.Ser2435Gly)
|
rs1555536038
|
|
NM_001042492.3(NF1):c.7303A>T (p.Ser2435Cys)
|
rs1555536038
|
|
NM_001042492.3(NF1):c.731-3C>G
|
|
|
NM_001042492.3(NF1):c.7315T>A (p.Leu2439Ile)
|
rs1597858629
|
|
NM_001042492.3(NF1):c.7315T>G (p.Leu2439Val)
|
|
|
NM_001042492.3(NF1):c.7317A>C (p.Leu2439Phe)
|
rs1597858633
|
|
NM_001042492.3(NF1):c.731A>G (p.Glu244Gly)
|
|
|
NM_001042492.3(NF1):c.7320A>C (p.Ala2440=)
|
|
|
NM_001042492.3(NF1):c.7321+3A>G
|
rs1597858650
|
|
NM_001042492.3(NF1):c.7321+4A>G
|
rs1597858660
|
|
NM_001042492.3(NF1):c.7324T>A (p.Leu2442Ile)
|
|
|
NM_001042492.3(NF1):c.7326A>T (p.Leu2442Phe)
|
|
|
NM_001042492.3(NF1):c.7334T>A (p.Val2445Glu)
|
|
|
NM_001042492.3(NF1):c.7334T>C (p.Val2445Ala)
|
rs1567623931
|
|
NM_001042492.3(NF1):c.7340AAG[1] (p.Glu2448del)
|
rs587781961
|
|
NM_001042492.3(NF1):c.7346T>C (p.Val2449Ala)
|
|
|
NM_001042492.3(NF1):c.734G>A (p.Cys245Tyr)
|
rs587781869
|
|
NM_001042492.3(NF1):c.734G>T (p.Cys245Phe)
|
rs587781869
|
|
NM_001042492.3(NF1):c.7355G>A (p.Arg2452His)
|
rs1555536122
|
|
NM_001042492.3(NF1):c.7355G>T (p.Arg2452Leu)
|
rs1555536122
|
|
NM_001042492.3(NF1):c.7361G>A (p.Ser2454Asn)
|
|
|
NM_001042492.3(NF1):c.7368A>C (p.Lys2456Asn)
|
rs201287021
|
|
NM_001042492.3(NF1):c.7369C>T (p.His2457Tyr)
|
rs768404575
|
|
NM_001042492.3(NF1):c.736G>C (p.Ala246Pro)
|
|
|
NM_001042492.3(NF1):c.7373G>A (p.Arg2458Lys)
|
rs1555536130
|
|
NM_001042492.3(NF1):c.7373G>T (p.Arg2458Ile)
|
|
|
NM_001042492.3(NF1):c.7381C>G (p.Leu2461Val)
|
rs1199046022
|
|
NM_001042492.3(NF1):c.7382T>A (p.Leu2461His)
|
rs2070105653
|
|
NM_001042492.3(NF1):c.7382T>C (p.Leu2461Pro)
|
|
|
NM_001042492.3(NF1):c.7384C>A (p.Leu2462Ile)
|
|
|
NM_001042492.3(NF1):c.7387C>G (p.Leu2463Val)
|
rs2070105859
|
|
NM_001042492.3(NF1):c.7387C>T (p.Leu2463Phe)
|
|
|
NM_001042492.3(NF1):c.7391C>T (p.Thr2464Ile)
|
rs1597859696
|
|
NM_001042492.3(NF1):c.7400C>T (p.Ser2467Leu)
|
rs1555536135
|
|
NM_001042492.3(NF1):c.7406A>G (p.Glu2469Gly)
|
rs1281096294
|
|
NM_001042492.3(NF1):c.7406A>T (p.Glu2469Val)
|
rs1281096294
|
|
NM_001042492.3(NF1):c.7411G>A (p.Val2471Ile)
|
rs876660126
|
|
NM_001042492.3(NF1):c.7415C>G (p.Pro2472Arg)
|
rs786202184
|
|
NM_001042492.3(NF1):c.7417A>G (p.Met2473Val)
|
rs1555536144
|
|
NM_001042492.3(NF1):c.7419G>A (p.Met2473Ile)
|
|
|
NM_001042492.3(NF1):c.7420G>T (p.Asp2474Tyr)
|
rs1405212000
|
|
NM_001042492.3(NF1):c.7424C>A (p.Thr2475Lys)
|
|
|
NM_001042492.3(NF1):c.7426T>C (p.Tyr2476His)
|
rs864622745
|
|
NM_001042492.3(NF1):c.7427A>T (p.Tyr2476Phe)
|
|
|
NM_001042492.3(NF1):c.7429C>G (p.Pro2477Ala)
|
rs876658722
|
|
NM_001042492.3(NF1):c.7430C>A (p.Pro2477His)
|
|
|
NM_001042492.3(NF1):c.7438C>T (p.His2480Tyr)
|
rs1555536166
|
|
NM_001042492.3(NF1):c.7442G>T (p.Gly2481Val)
|
rs786202540
|
|
NM_001042492.3(NF1):c.7444G>A (p.Asp2482Asn)
|
|
|
NM_001042492.3(NF1):c.7446C>A (p.Asp2482Glu)
|
rs876660614
|
|
NM_001042492.3(NF1):c.7448C>G (p.Pro2483Arg)
|
rs2070108464
|
|
NM_001042492.3(NF1):c.744G>T (p.Lys248Asn)
|
|
|
NM_001042492.3(NF1):c.7454A>C (p.Tyr2485Ser)
|
|
|
NM_001042492.3(NF1):c.7456A>T (p.Arg2486Trp)
|
|
|
NM_001042492.3(NF1):c.7457+5G>A
|
rs1555536171
|
|
NM_001042492.3(NF1):c.7457G>T (p.Arg2486Met)
|
|
|
NM_001042492.3(NF1):c.7458-3C>G
|
rs1158267419
|
|
NM_001042492.3(NF1):c.7458-5T>G
|
|
|
NM_001042492.3(NF1):c.7458G>T (p.Arg2486Ser)
|
rs2070166426
|
|
NM_001042492.3(NF1):c.746T>C (p.Leu249Pro)
|
rs1567826623
|
|
NM_001042492.3(NF1):c.746T>G (p.Leu249Arg)
|
rs1567826623
|
|
NM_001042492.3(NF1):c.7477C>T (p.Pro2493Ser)
|
rs2070167112
|
|
NM_001042492.3(NF1):c.7478C>T (p.Pro2493Leu)
|
rs2151576963
|
|
NM_001042492.3(NF1):c.7480T>C (p.Trp2494Arg)
|
|
|
NM_001042492.3(NF1):c.7487C>T (p.Ser2496Phe)
|
rs371773406
|
|
NM_001042492.3(NF1):c.7490C>T (p.Pro2497Leu)
|
rs1555536347
|
|
NM_001042492.3(NF1):c.7494A>C (p.Lys2498Asn)
|
rs2070167780
|
|
NM_001042492.3(NF1):c.7495G>C (p.Gly2499Arg)
|
|
|
NM_001042492.3(NF1):c.7495_7496delinsCT (p.Gly2499Leu)
|
rs2070167904
|
|
NM_001042492.3(NF1):c.74C>T (p.Thr25Ile)
|
rs1555604874
|
|
NM_001042492.3(NF1):c.7504G>C (p.Gly2502Arg)
|
rs1555536357
|
|
NM_001042492.3(NF1):c.7510C>A (p.Leu2504Ile)
|
rs876658333
|
|
NM_001042492.3(NF1):c.7510C>T (p.Leu2504Phe)
|
rs876658333
|
|
NM_001042492.3(NF1):c.7513G>C (p.Ala2505Pro)
|
rs786202955
|
|
NM_001042492.3(NF1):c.7514C>G (p.Ala2505Gly)
|
rs1567625126
|
|
NM_001042492.3(NF1):c.7525C>A (p.Pro2509Thr)
|
rs886052803
|
|
NM_001042492.3(NF1):c.7526C>T (p.Pro2509Leu)
|
rs786202146
|
|
NM_001042492.3(NF1):c.7531G>A (p.Val2511Ile)
|
|
|
NM_001042492.3(NF1):c.753C>G (p.Asp251Glu)
|
rs1567826636
|
|
NM_001042492.3(NF1):c.7543A>C (p.Ser2515Arg)
|
|
|
NM_001042492.3(NF1):c.7544G>T (p.Ser2515Ile)
|
rs1597862174
|
|
NM_001042492.3(NF1):c.7550G>A (p.Arg2517Gln)
|
rs755260088
|
|
NM_001042492.3(NF1):c.7564A>G (p.Met2522Val)
|
rs1597862205
|
|
NM_001042492.3(NF1):c.7568G>A (p.Ser2523Asn)
|
|
|
NM_001042492.3(NF1):c.7568_7615+1494del
|
|
|
NM_001042492.3(NF1):c.7576A>G (p.Met2526Val)
|
|
|
NM_001042492.3(NF1):c.757G>C (p.Val253Leu)
|
rs786203607
|
|
NM_001042492.3(NF1):c.757G>T (p.Val253Leu)
|
rs786203607
|
|
NM_001042492.3(NF1):c.7583A>G (p.Gln2528Arg)
|
|
|
NM_001042492.3(NF1):c.7594G>A (p.Ala2532Thr)
|
rs1555536373
|
|
NM_001042492.3(NF1):c.7597A>T (p.Asn2533Tyr)
|
rs2151577390
|
|
NM_001042492.3(NF1):c.7598A>G (p.Asn2533Ser)
|
|
|
NM_001042492.3(NF1):c.7603A>G (p.Lys2535Glu)
|
|
|
NM_001042492.3(NF1):c.760G>A (p.Asp254Asn)
|
|
|
NM_001042492.3(NF1):c.7610T>C (p.Leu2537Ser)
|
rs876658670
|
|
NM_001042492.3(NF1):c.7616G>A (p.Gly2539Glu)
|
|
|
NM_001042492.3(NF1):c.7616G>C (p.Gly2539Ala)
|
rs1597865736
|
|
NM_001042492.3(NF1):c.7618A>G (p.Thr2540Ala)
|
rs1555536632
|
|
NM_001042492.3(NF1):c.7619C>A (p.Thr2540Lys)
|
rs1555536633
|
|
NM_001042492.3(NF1):c.761A>G (p.Asp254Gly)
|
rs2066156209
|
|
NM_001042492.3(NF1):c.7633G>T (p.Asp2545Tyr)
|
|
|
NM_001042492.3(NF1):c.7634A>G (p.Asp2545Gly)
|
|
|
NM_001042492.3(NF1):c.7635T>A (p.Asp2545Glu)
|
rs876659530
|
|
NM_001042492.3(NF1):c.7637A>C (p.His2546Pro)
|
|
|
NM_001042492.3(NF1):c.763G>A (p.Gly255Ser)
|
rs773207833
|
|
NM_001042492.3(NF1):c.7642A>G (p.Ile2548Val)
|
rs1555536636
|
|
NM_001042492.3(NF1):c.7644A>G (p.Ile2548Met)
|
rs2070273405
|
|
NM_001042492.3(NF1):c.7648G>C (p.Asp2550His)
|
rs2151581078
|
|
NM_001042492.3(NF1):c.7649A>C (p.Asp2550Ala)
|
|
|
NM_001042492.3(NF1):c.764G>A (p.Gly255Asp)
|
|
|
NM_001042492.3(NF1):c.7651A>G (p.Thr2551Ala)
|
rs2151581089
|
|
NM_001042492.3(NF1):c.7657G>C (p.Ala2553Pro)
|
rs1555536644
|
|
NM_001042492.3(NF1):c.7657G>T (p.Ala2553Ser)
|
rs1555536644
|
|
NM_001042492.3(NF1):c.7663A>G (p.Lys2555Glu)
|
rs786203792
|
|
NM_001042492.3(NF1):c.7667G>T (p.Arg2556Met)
|
rs1597865787
|
|
NM_001042492.3(NF1):c.7670A>C (p.Gln2557Pro)
|
rs2070273995
|
|
NM_001042492.3(NF1):c.7673A>G (p.Glu2558Gly)
|
|
|
NM_001042492.3(NF1):c.7674A>T (p.Glu2558Asp)
|
|
|
NM_001042492.3(NF1):c.7684G>A (p.Gly2562Arg)
|
rs1555536647
|
|
NM_001042492.3(NF1):c.7685G>A (p.Gly2562Glu)
|
|
|
NM_001042492.3(NF1):c.7685G>T (p.Gly2562Val)
|
rs2070274448
|
|
NM_001042492.3(NF1):c.7687A>G (p.Ile2563Val)
|
rs1555536648
|
|
NM_001042492.3(NF1):c.7688T>A (p.Ile2563Asn)
|
|
|
NM_001042492.3(NF1):c.7693A>C (p.Thr2565Pro)
|
rs786202548
|
|
NM_001042492.3(NF1):c.7693A>G (p.Thr2565Ala)
|
rs786202548
|
|
NM_001042492.3(NF1):c.7696C>A (p.Pro2566Thr)
|
|
|
NM_001042492.3(NF1):c.76G>A (p.Gly26Arg)
|
rs778973022
|
|
NM_001042492.3(NF1):c.7700C>G (p.Pro2567Arg)
|
rs754511534
|
|
NM_001042492.3(NF1):c.770C>T (p.Ala257Val)
|
rs2143785365
|
|
NM_001042492.3(NF1):c.7714G>C (p.Val2572Leu)
|
rs1555536652
|
|
NM_001042492.3(NF1):c.7717G>A (p.Ala2573Thr)
|
rs1555536654
|
|
NM_001042492.3(NF1):c.7718C>G (p.Ala2573Gly)
|
|
|
NM_001042492.3(NF1):c.7724C>T (p.Thr2575Ile)
|
rs1597865850
|
|
NM_001042492.3(NF1):c.7739-3C>T
|
rs747382969
|
|
NM_001042492.3(NF1):c.7741A>T (p.Thr2581Ser)
|
rs1597866308
|
|
NM_001042492.3(NF1):c.7744C>G (p.Gln2582Glu)
|
|
|
NM_001042492.3(NF1):c.7748G>T (p.Arg2583Met)
|
|
|
NM_001042492.3(NF1):c.7750A>T (p.Ile2584Phe)
|
|
|
NM_001042492.3(NF1):c.7751T>G (p.Ile2584Ser)
|
rs1597866331
|
|
NM_001042492.3(NF1):c.7767G>C (p.Gln2589His)
|
rs587782168
|
|
NM_001042492.3(NF1):c.7768C>T (p.His2590Tyr)
|
rs1555536690
|
|
NM_001042492.3(NF1):c.7769A>C (p.His2590Pro)
|
|
|
NM_001042492.3(NF1):c.776G>T (p.Ser259Ile)
|
|
|
NM_001042492.3(NF1):c.7770C>A (p.His2590Gln)
|
rs1060503906
|
|
NM_001042492.3(NF1):c.7772C>G (p.Pro2591Arg)
|
|
|
NM_001042492.3(NF1):c.7774C>A (p.His2592Asn)
|
rs749460130
|
|
NM_001042492.3(NF1):c.7774C>G (p.His2592Asp)
|
|
|
NM_001042492.3(NF1):c.7774C>T (p.His2592Tyr)
|
|
|
NM_001042492.3(NF1):c.7775A>T (p.His2592Leu)
|
rs1597866394
|
|
NM_001042492.3(NF1):c.7775_7780del (p.His2592_Leu2593del)
|
|
|
NM_001042492.3(NF1):c.7776T>A (p.His2592Gln)
|
rs1555536692
|
|
NM_001042492.3(NF1):c.7781G>C (p.Arg2594Pro)
|
|
|
NM_001042492.3(NF1):c.778A>G (p.Thr260Ala)
|
rs1466892954
|
|
NM_001042492.3(NF1):c.7792G>T (p.Val2598Leu)
|
rs2151582315
|
|
NM_001042492.3(NF1):c.779C>T (p.Thr260Ile)
|
rs1567826665
|
|
NM_001042492.3(NF1):c.7804A>G (p.Asn2602Asp)
|
rs150657839
|
|
NM_001042492.3(NF1):c.7804A>T (p.Asn2602Tyr)
|
rs150657839
|
|
NM_001042492.3(NF1):c.7805A>G (p.Asn2602Ser)
|
rs2151582358
|
|
NM_001042492.3(NF1):c.7806T>A (p.Asn2602Lys)
|
|
|
NM_001042492.3(NF1):c.7807G>A (p.Val2603Ile)
|
rs766135206
|
|
NM_001042492.3(NF1):c.7808T>C (p.Val2603Ala)
|
rs1597866454
|
|
NM_001042492.3(NF1):c.7816G>A (p.Asp2606Asn)
|
rs2151582401
|
|
NM_001042492.3(NF1):c.7820A>G (p.Glu2607Gly)
|
rs1597866483
|
|
NM_001042492.3(NF1):c.7822G>A (p.Glu2608Lys)
|
rs1597866487
|
|
NM_001042492.3(NF1):c.7828C>G (p.Leu2610Val)
|
|
|
NM_001042492.3(NF1):c.7829T>C (p.Leu2610Pro)
|
|
|
NM_001042492.3(NF1):c.782A>G (p.Lys261Arg)
|
|
|
NM_001042492.3(NF1):c.7831A>G (p.Thr2611Ala)
|
rs759424718
|
|
NM_001042492.3(NF1):c.7834G>A (p.Asp2612Asn)
|
|
|
NM_001042492.3(NF1):c.7837C>A (p.Pro2613Thr)
|
rs138839077
|
|
NM_001042492.3(NF1):c.7838C>A (p.Pro2613Gln)
|
rs750972729
|
|
NM_001042492.3(NF1):c.7842G>T (p.Lys2614Asn)
|
rs1555536710
|
|
NM_001042492.3(NF1):c.7843A>G (p.Ile2615Val)
|
|
|
NM_001042492.3(NF1):c.7846C>G (p.Gln2616Glu)
|
rs1555536713
|
|
NM_001042492.3(NF1):c.784C>T (p.Arg262Cys)
|
rs754343223
|
|
NM_001042492.3(NF1):c.7855CTT[1] (p.Leu2620del)
|
|
|
NM_001042492.3(NF1):c.785G>A (p.Arg262His)
|
rs1555608957
|
|
NM_001042492.3(NF1):c.785G>C (p.Arg262Pro)
|
rs1555608957
|
|
NM_001042492.3(NF1):c.7864G>A (p.Val2622Ile)
|
rs1471144465
|
|
NM_001042492.3(NF1):c.7864G>C (p.Val2622Leu)
|
rs1471144465
|
|
NM_001042492.3(NF1):c.7867C>A (p.Leu2623Ile)
|
|
|
NM_001042492.3(NF1):c.7867C>G (p.Leu2623Val)
|
rs1555536721
|
|
NM_001042492.3(NF1):c.7869+5G>C
|
rs1555536725
|
|
NM_001042492.3(NF1):c.7870-3C>T
|
rs1597866792
|
|
NM_001042492.3(NF1):c.7870-5G>T
|
rs1169181885
|
|
NM_001042492.3(NF1):c.7870G>A (p.Ala2624Thr)
|
rs1597866802
|
|
NM_001042492.3(NF1):c.7873A>G (p.Thr2625Ala)
|
rs2070296220
|
|
NM_001042492.3(NF1):c.7874C>T (p.Thr2625Ile)
|
rs2151583169
|
|
NM_001042492.3(NF1):c.7876C>A (p.Leu2626Met)
|
rs1555536748
|
|
NM_001042492.3(NF1):c.7888A>G (p.Thr2630Ala)
|
rs1567627155
|
|
NM_001042492.3(NF1):c.7889C>T (p.Thr2630Ile)
|
rs1283946778
|
|
NM_001042492.3(NF1):c.7896T>A (p.Asp2632Glu)
|
rs1277560744
|
|
NM_001042492.3(NF1):c.7898A>T (p.Glu2633Val)
|
|
|
NM_001042492.3(NF1):c.7905T>G (p.Asp2635Glu)
|
|
|
NM_001042492.3(NF1):c.790G>A (p.Ala264Thr)
|
|
|
NM_001042492.3(NF1):c.7910G>T (p.Arg2637Leu)
|
rs560262404
|
|
NM_001042492.3(NF1):c.7914T>G (p.Ile2638Met)
|
rs1597866892
|
|
NM_001042492.3(NF1):c.7915C>A (p.Leu2639Ile)
|
rs1057518362
|
|
NM_001042492.3(NF1):c.7915C>T (p.Leu2639Phe)
|
rs1057518362
|
|
NM_001042492.3(NF1):c.7919A>G (p.Tyr2640Cys)
|
rs1597866901
|
|
NM_001042492.3(NF1):c.7940G>A (p.Ser2647Asn)
|
|
|
NM_001042492.3(NF1):c.7942G>A (p.Val2648Ile)
|
|
|
NM_001042492.3(NF1):c.7943T>C (p.Val2648Ala)
|
|
|
NM_001042492.3(NF1):c.7945G>T (p.Val2649Leu)
|
|
|
NM_001042492.3(NF1):c.7948T>C (p.Phe2650Leu)
|
|
|
NM_001042492.3(NF1):c.7949T>G (p.Phe2650Cys)
|
rs754443238
|
|
NM_001042492.3(NF1):c.794C>T (p.Ala265Val)
|
|
|
NM_001042492.3(NF1):c.7950T>G (p.Phe2650Leu)
|
|
|
NM_001042492.3(NF1):c.7955A>G (p.Lys2652Arg)
|
rs1597866986
|
|
NM_001042492.3(NF1):c.7962T>G (p.Phe2654Leu)
|
rs1597867008
|
|
NM_001042492.3(NF1):c.7963C>A (p.Pro2655Thr)
|
rs587781791
|
|
NM_001042492.3(NF1):c.7963C>G (p.Pro2655Ala)
|
rs587781791
|
|
NM_001042492.3(NF1):c.7963C>T (p.Pro2655Ser)
|
rs587781791
|
|
NM_001042492.3(NF1):c.7966G>A (p.Val2656Ile)
|
|
|
NM_001042492.3(NF1):c.7969G>A (p.Val2657Met)
|
|
|
NM_001042492.3(NF1):c.7971-4T>G
|
rs1555536865
|
|
NM_001042492.3(NF1):c.797T>A (p.Val266Asp)
|
|
|
NM_001042492.3(NF1):c.7988C>G (p.Ser2663Cys)
|
rs786202579
|
|
NM_001042492.3(NF1):c.7988C>T (p.Ser2663Phe)
|
rs786202579
|
|
NM_001042492.3(NF1):c.7992G>T (p.Lys2664Asn)
|
|
|
NM_001042492.3(NF1):c.7995C>G (p.Ile2665Met)
|
rs1037082087
|
|
NM_001042492.3(NF1):c.7996A>G (p.Asn2666Asp)
|
rs1555536888
|
|
NM_001042492.3(NF1):c.799T>G (p.Trp267Gly)
|
|
|
NM_001042492.3(NF1):c.8000C>G (p.Thr2667Ser)
|
rs786203669
|
|
NM_001042492.3(NF1):c.8000C>T (p.Thr2667Ile)
|
rs786203669
|
|
NM_001042492.3(NF1):c.8002C>G (p.Leu2668Val)
|
rs1060503905
|
|
NM_001042492.3(NF1):c.8005T>A (p.Leu2669Ile)
|
|
|
NM_001042492.3(NF1):c.8008T>C (p.Ser2670Pro)
|
rs1597868102
|
|
NM_001042492.3(NF1):c.8009_8011del (p.Ser2670del)
|
|
|
NM_001042492.3(NF1):c.8011T>A (p.Leu2671Met)
|
rs2070326229
|
|
NM_001042492.3(NF1):c.8023C>A (p.Pro2675Thr)
|
rs1597868132
|
|
NM_001042492.3(NF1):c.8023C>G (p.Pro2675Ala)
|
|
|
NM_001042492.3(NF1):c.8026A>G (p.Asn2676Asp)
|
rs1555536902
|
|
NM_001042492.3(NF1):c.8032T>A (p.Leu2678Ile)
|
rs1597868148
|
|
NM_001042492.3(NF1):c.8038C>T (p.Pro2680Ser)
|
|
|
NM_001042492.3(NF1):c.803C>A (p.Pro268Gln)
|
rs1441060549
|
|
NM_001042492.3(NF1):c.803C>T (p.Pro268Leu)
|
rs1441060549
|
|
NM_001042492.3(NF1):c.8042T>A (p.Ile2681Asn)
|
|
|
NM_001042492.3(NF1):c.8046T>A (p.His2682Gln)
|
rs1184642602
|
|
NM_001042492.3(NF1):c.8057A>G (p.Gln2686Arg)
|
rs890017184
|
|
NM_001042492.3(NF1):c.8058G>C (p.Gln2686His)
|
|
|
NM_001042492.3(NF1):c.8065G>A (p.Val2689Met)
|
rs761214867
|
|
NM_001042492.3(NF1):c.8075A>T (p.Glu2692Val)
|
|
|
NM_001042492.3(NF1):c.8080T>A (p.Ser2694Thr)
|
rs876658554
|
|
NM_001042492.3(NF1):c.8081C>A (p.Ser2694Tyr)
|
rs1597868223
|
|
NM_001042492.3(NF1):c.8083C>T (p.Pro2695Ser)
|
rs772707560
|
|
NM_001042492.3(NF1):c.8084C>T (p.Pro2695Leu)
|
rs2070328290
|
|
NM_001042492.3(NF1):c.8087C>G (p.Pro2696Arg)
|
rs1597868252
|
|
NM_001042492.3(NF1):c.8095C>G (p.Gln2699Glu)
|
rs786203443
|
|
NM_001042492.3(NF1):c.809A>T (p.Gln270Leu)
|
|
|
NM_001042492.3(NF1):c.8104T>C (p.Tyr2702His)
|
|
|
NM_001042492.3(NF1):c.8107C>A (p.Leu2703Met)
|
rs955074155
|
|
NM_001042492.3(NF1):c.8113+4A>G
|
|
|
NM_001042492.3(NF1):c.8113A>G (p.Ser2705Gly)
|
rs1597868305
|
|
NM_001042492.3(NF1):c.8114G>A (p.Ser2705Asn)
|
|
|
NM_001042492.3(NF1):c.8129G>A (p.Gly2710Asp)
|
rs1597868740
|
|
NM_001042492.3(NF1):c.8129G>T (p.Gly2710Val)
|
rs1597868740
|
|
NM_001042492.3(NF1):c.812T>C (p.Ile271Thr)
|
rs1597659948
|
|
NM_001042492.3(NF1):c.8137C>T (p.Arg2713Trp)
|
rs757391670
|
|
NM_001042492.3(NF1):c.8138G>A (p.Arg2713Gln)
|
rs1170836879
|
|
NM_001042492.3(NF1):c.8144C>T (p.Ala2715Val)
|
rs1597868802
|
|
NM_001042492.3(NF1):c.814A>G (p.Ile272Val)
|
rs1555608971
|
|
NM_001042492.3(NF1):c.8156C>T (p.Ser2719Leu)
|
|
|
NM_001042492.3(NF1):c.8160+4A>C
|
rs1555537033
|
|
NM_001042492.3(NF1):c.8160+4A>G
|
rs1555537033
|
|
NM_001042492.3(NF1):c.8160+5G>A
|
|
|
NM_001042492.3(NF1):c.8160G>C (p.Lys2720Asn)
|
rs1555537030
|
|
NM_001042492.3(NF1):c.8161-4A>G
|
rs2151587589
|
|
NM_001042492.3(NF1):c.8162A>G (p.Gln2721Arg)
|
rs876657933
|
|
NM_001042492.3(NF1):c.8163A>C (p.Gln2721His)
|
|
|
NM_001042492.3(NF1):c.8183C>T (p.Ala2728Val)
|
rs760973918
|
|
NM_001042492.3(NF1):c.8209G>A (p.Ala2737Thr)
|
rs2151587791
|
|
NM_001042492.3(NF1):c.820C>T (p.Leu274Phe)
|
|
|
NM_001042492.3(NF1):c.8210C>G (p.Ala2737Gly)
|
|
|
NM_001042492.3(NF1):c.8214G>C (p.Leu2738Phe)
|
rs786201597
|
|
NM_001042492.3(NF1):c.8222C>A (p.Thr2741Lys)
|
rs144178015
|
|
NM_001042492.3(NF1):c.8222C>T (p.Thr2741Met)
|
rs144178015
|
|
NM_001042492.3(NF1):c.8227C>A (p.Leu2743Met)
|
|
|
NM_001042492.3(NF1):c.8227C>G (p.Leu2743Val)
|
rs1597870180
|
|
NM_001042492.3(NF1):c.8230C>T (p.Pro2744Ser)
|
|
|
NM_001042492.3(NF1):c.8239G>A (p.Asp2747Asn)
|
rs745472917
|
|
NM_001042492.3(NF1):c.823A>G (p.Ile275Val)
|
rs786202464
|
|
NM_001042492.3(NF1):c.823A>T (p.Ile275Phe)
|
rs786202464
|
|
NM_001042492.3(NF1):c.8241T>A (p.Asp2747Glu)
|
|
|
NM_001042492.3(NF1):c.8243A>C (p.Glu2748Ala)
|
|
|
NM_001042492.3(NF1):c.8249C>T (p.Thr2750Ile)
|
|
|
NM_001042492.3(NF1):c.8251A>T (p.Ser2751Cys)
|
|
|
NM_001042492.3(NF1):c.8252G>A (p.Ser2751Asn)
|
rs2151587925
|
|
NM_001042492.3(NF1):c.8261C>T (p.Ser2754Phe)
|
rs2151587952
|
|
NM_001042492.3(NF1):c.8263C>G (p.Leu2755Val)
|
|
|
NM_001042492.3(NF1):c.8269A>G (p.Thr2757Ala)
|
|
|
NM_001042492.3(NF1):c.8270C>T (p.Thr2757Ile)
|
rs1555537244
|
|
NM_001042492.3(NF1):c.8285A>C (p.Tyr2762Ser)
|
rs1597870238
|
|
NM_001042492.3(NF1):c.8294C>T (p.Ala2765Val)
|
|
|
NM_001042492.3(NF1):c.8307G>T (p.Gln2769His)
|
|
|
NM_001042492.3(NF1):c.8309T>A (p.Leu2770His)
|
|
|
NM_001042492.3(NF1):c.8309T>C (p.Leu2770Pro)
|
|
|
NM_001042492.3(NF1):c.8313T>A (p.Ser2771Arg)
|
|
|
NM_001042492.3(NF1):c.8314A>G (p.Ile2772Val)
|
rs762336662
|
|
NM_001042492.3(NF1):c.8318C>T (p.Thr2773Ile)
|
rs1597870290
|
|
NM_001042492.3(NF1):c.8323A>T (p.Asn2775Tyr)
|
rs1555537252
|
|
NM_001042492.3(NF1):c.8324A>T (p.Asn2775Ile)
|
|
|
NM_001042492.3(NF1):c.8327T>G (p.Leu2776Arg)
|
|
|
NM_001042492.3(NF1):c.8332C>A (p.Leu2778Ile)
|
|
|
NM_001042492.3(NF1):c.8333T>G (p.Leu2778Arg)
|
rs1555537253
|
|
NM_001042492.3(NF1):c.8362T>G (p.Ser2788Ala)
|
rs374004608
|
|
NM_001042492.3(NF1):c.8363C>T (p.Ser2788Phe)
|
rs1567628713
|
|
NM_001042492.3(NF1):c.8369A>T (p.His2790Leu)
|
|
|
NM_001042492.3(NF1):c.8372C>T (p.Ser2791Phe)
|
rs1597870350
|
|
NM_001042492.3(NF1):c.8374C>T (p.Pro2792Ser)
|
rs2070377546
|
|
NM_001042492.3(NF1):c.8377+5G>A
|
|
|
NM_001042492.3(NF1):c.8378-3C>T
|
|
|
NM_001042492.3(NF1):c.8389G>A (p.Glu2797Lys)
|
|
|
NM_001042492.3(NF1):c.8389_8391del (p.Glu2797del)
|
rs1555538511
|
|
NM_001042492.3(NF1):c.8391dup (p.Asn2798fs)
|
rs1555538513
|
|
NM_001042492.3(NF1):c.8393A>G (p.Asn2798Ser)
|
rs1555538515
|
|
NM_001042492.3(NF1):c.8396T>C (p.Val2799Ala)
|
rs2070695501
|
|
NM_001042492.3(NF1):c.8398G>C (p.Glu2800Gln)
|
rs1597882991
|
|
NM_001042492.3(NF1):c.8407C>A (p.Pro2803Thr)
|
rs779180729
|
|
NM_001042492.3(NF1):c.8407C>G (p.Pro2803Ala)
|
rs779180729
|
|
NM_001042492.3(NF1):c.8407C>T (p.Pro2803Ser)
|
rs779180729
|
|
NM_001042492.3(NF1):c.8417G>T (p.Gly2806Val)
|
|
|
NM_001042492.3(NF1):c.8420A>G (p.His2807Arg)
|
rs2070695954
|
|
NM_001042492.3(NF1):c.8421C>A (p.His2807Gln)
|
rs1326795798
|
|
NM_001042492.3(NF1):c.8423G>A (p.Cys2808Tyr)
|
|
|
NM_001042492.3(NF1):c.8423G>T (p.Cys2808Phe)
|
|
|
NM_001042492.3(NF1):c.8423_8424delinsTC (p.Cys2808Phe)
|
|
|
NM_001042492.3(NF1):c.8425A>T (p.Asn2809Tyr)
|
|
|
NM_001042492.3(NF1):c.8428A>G (p.Ser2810Gly)
|
rs1597883071
|
|
NM_001042492.3(NF1):c.8434C>T (p.Arg2812Ter)
|
|
|
NM_001042492.3(NF1):c.8437A>T (p.Thr2813Ser)
|
rs1597883075
|
|
NM_001042492.3(NF1):c.843C>G (p.Ile281Met)
|
|
|
NM_001042492.3(NF1):c.8440C>T (p.Arg2814Cys)
|
rs876658139
|
|
NM_001042492.3(NF1):c.8443C>T (p.His2815Tyr)
|
rs2070696484
|
|
NM_001042492.3(NF1):c.8444A>C (p.His2815Pro)
|
|
|
NM_001042492.3(NF1):c.8445C>A (p.His2815Gln)
|
rs1597883082
|
|
NM_001042492.3(NF1):c.8450C>T (p.Ser2817Phe)
|
rs1048863798
|
|
NM_001042492.3(NF1):c.8452G>A (p.Ala2818Thr)
|
rs771006452
|
|
NM_001042492.3(NF1):c.8452G>T (p.Ala2818Ser)
|
rs771006452
|
|
NM_001042492.3(NF1):c.8461G>A (p.Val2821Met)
|
rs1567634549
|
|
NM_001042492.3(NF1):c.8469G>T (p.Lys2823Asn)
|
rs1203883572
|
|
NM_001042492.3(NF1):c.8472A>C (p.Gln2824His)
|
|
|
NM_001042492.3(NF1):c.8477G>C (p.Ser2826Thr)
|
rs1057523477
|
|
NM_001042492.3(NF1):c.8482G>A (p.Gly2828Ser)
|
rs2070697456
|
|
NM_001042492.3(NF1):c.848A>G (p.Asp283Gly)
|
rs878853921
|
|
NM_001042492.3(NF1):c.8490C>G (p.Phe2830Leu)
|
rs760550772
|
|
NM_001042492.3(NF1):c.8499T>G (p.Asn2833Lys)
|
rs142636150
|
|
NM_001042492.3(NF1):c.8501G>C (p.Ser2834Thr)
|
|
|
NM_001042492.3(NF1):c.8503A>C (p.Ile2835Leu)
|
|
|
NM_001042492.3(NF1):c.8507AGA[1] (p.Lys2837del)
|
rs1555538565
|
|
NM_001042492.3(NF1):c.8512A>T (p.Ile2838Phe)
|
|
|
NM_001042492.3(NF1):c.8515G>C (p.Val2839Leu)
|
rs368149035
|
|
NM_001042492.3(NF1):c.8515G>T (p.Val2839Leu)
|
rs368149035
|
|
NM_001042492.3(NF1):c.852A>G (p.Ile284Met)
|
rs1567826762
|
|
NM_001042492.3(NF1):c.860A>T (p.Asp287Val)
|
|
|
NM_001042492.3(NF1):c.861C>A (p.Asp287Glu)
|
|
|
NM_001042492.3(NF1):c.866T>C (p.Val289Ala)
|
rs749251299
|
|
NM_001042492.3(NF1):c.868G>A (p.Asp290Asn)
|
rs1597660081
|
|
NM_001042492.3(NF1):c.872A>C (p.Glu291Ala)
|
rs876660171
|
|
NM_001042492.3(NF1):c.875A>G (p.Asn292Ser)
|
|
|
NM_001042492.3(NF1):c.880A>G (p.Met294Val)
|
rs1597660112
|
|
NM_001042492.3(NF1):c.882G>A (p.Met294Ile)
|
|
|
NM_001042492.3(NF1):c.885T>A (p.Asn295Lys)
|
rs864622300
|
|
NM_001042492.3(NF1):c.888+2T>C
|
rs2066160116
|
|
NM_001042492.3(NF1):c.888+744A>G
|
rs1597660915
|
|
NM_001042492.3(NF1):c.889-5T>G
|
|
|
NM_001042492.3(NF1):c.889-5del
|
rs1555610837
|
|
NM_001042492.3(NF1):c.88A>C (p.Thr30Pro)
|
rs1555604881
|
|
NM_001042492.3(NF1):c.88A>G (p.Thr30Ala)
|
|
|
NM_001042492.3(NF1):c.890A>T (p.Lys297Met)
|
|
|
NM_001042492.3(NF1):c.894A>C (p.Leu298Phe)
|
|
|
NM_001042492.3(NF1):c.901G>A (p.Asp301Asn)
|
rs2066505718
|
|
NM_001042492.3(NF1):c.903C>G (p.Asp301Glu)
|
|
|
NM_001042492.3(NF1):c.907C>G (p.Leu303Val)
|
rs1555610847
|
|
NM_001042492.3(NF1):c.917C>T (p.Ala306Val)
|
rs1597680783
|
|
NM_001042492.3(NF1):c.919C>T (p.Leu307Phe)
|
|
|
NM_001042492.3(NF1):c.922_923delinsTT (p.Ala308Phe)
|
rs1597680797
|
|
NM_001042492.3(NF1):c.923C>G (p.Ala308Gly)
|
rs876660836
|
|
NM_001042492.3(NF1):c.925G>A (p.Gly309Ser)
|
|
|
NM_001042492.3(NF1):c.925_926delinsAT (p.Gly309Ile)
|
|
|
NM_001042492.3(NF1):c.928C>T (p.His310Tyr)
|
rs1597680837
|
|
NM_001042492.3(NF1):c.929A>G (p.His310Arg)
|
|
|
NM_001042492.3(NF1):c.92A>C (p.His31Pro)
|
|
|
NM_001042492.3(NF1):c.92A>G (p.His31Arg)
|
rs199474725
|
|
NM_001042492.3(NF1):c.930T>A (p.His310Gln)
|
rs1555610865
|
|
NM_001042492.3(NF1):c.932G>A (p.Gly311Glu)
|
|
|
NM_001042492.3(NF1):c.935G>A (p.Gly312Glu)
|
rs1555610868
|
|
NM_001042492.3(NF1):c.935G>T (p.Gly312Val)
|
rs1555610868
|
|
NM_001042492.3(NF1):c.936A>G (p.Gly312=)
|
|
|
NM_001042492.3(NF1):c.93T>A (p.His31Gln)
|
rs2143625630
|
|
NM_001042492.3(NF1):c.940A>G (p.Arg314Gly)
|
|
|
NM_001042492.3(NF1):c.945G>C (p.Gln315His)
|
|
|
NM_001042492.3(NF1):c.94A>G (p.Thr32Ala)
|
|
|
NM_001042492.3(NF1):c.950C>T (p.Thr317Ile)
|
|
|
NM_001042492.3(NF1):c.962C>T (p.Ala321Val)
|
rs2143873023
|
|
NM_001042492.3(NF1):c.965T>C (p.Ile322Thr)
|
rs1417994243
|
|
NM_001042492.3(NF1):c.971G>T (p.Cys324Phe)
|
|
|
NM_001042492.3(NF1):c.976A>G (p.Lys326Glu)
|
rs1597680956
|
|
NM_001042492.3(NF1):c.980T>A (p.Leu327Gln)
|
|
|
NM_001042492.3(NF1):c.986A>G (p.Lys329Arg)
|
rs1555610894
|
|
NM_001042492.3(NF1):c.98A>G (p.Lys33Arg)
|
rs1555604887
|
|
NM_001042492.3(NF1):c.992G>A (p.Ser331Asn)
|
rs1555610899
|
|